MRCS Applied Basic Science and Clinical Topics

Hepatobiliary and pancreatic disease 187

Child–Pugh classification of the severity of cirrhosis

Variable Score

1 point 2 points 3 points

Encephalopathy Absent Mild/moderate Severe or coma

Bilirubin (μmol/L) Less than 34 34–51 More than 51

Albumin (g/L) More than 35 28–35 Less than 28

Prothrombin time (sec above 1–4 4–6 More than 6
.ir/Table 13.4 Child–Pugh classification of the severity of cirrhosis
normal) None Mild Moderate or severe
Ascites

• Class A – score 5–6β  Total shunts have a wide diameter and
decompress all of the portal circulation.
s• Class B – score 7–9 Following a total shunt, there is no portal
s• Class C – score more than 10 venous flow to the liver. Over 90% long-
nManagement term patency can be achieved but 30–40%
iaIn patients with known oesophageal of patients will develop encephalopathy.
Examples of total shunts are:
varices, the risk of oesophageal bleeding
can be reduced by the use of blockers. • End-to-side portocaval shunt
• Side-to-side portocaval shunt
rsSclerotherapy of varices does not prevent • Mesocaval C-graft
• Central splenorenal shunt
bleeding. Transjugular intrahepatic
Partial shunts have a narrow diameter and
eportosystemic shunting (TIPPS) involves the partially decompress the portal circulation.
Some portal vein flow is maintained. About
creation of an intrahepatic portosystemic 20% of partial shunts will either stenose or
occlude but only 10% of patients will develop
.pshunt. The hepatic vein is cannulated via the encephalopathy. An example of a partial
shunt is the small bore portocaval H-graft.
internal jugular vein. The intrahepatic portal
Selective shunts decompress part of the
ipvein is punctured percutaneously. A guide portal circulation and portal vein flow is
maintained. Examples of selective shunts are
wire is passed from the portal to hepatic the distal splenorenal and splenocaval shunts.

://vvein. A stent is then passed along guide wire.Ascites

Complications include encephalopathy
and liver failure. The role TIPPS in primary
prevention of oesophageal bleeding is at

ttppresent unknown.

Surgical shunts

The aims of surgical shunts are to reduce

hportal venous pressure. Portocaval shunts
were commonly performed until the Ascites is free fluid within the abdominal

mid-1980s. Their use has decreased due cavity. Over 70% cases are due to liver disease.

to the introduction of TIPPS and liver Pathophysiology
transplantation in end-stage liver disease. The
current roles of surgical shunts are to control The normal peritoneal cavity contains
variceal bleeding when there is no access to approximately 100 mL of fluid. It is a
TIPPS, to reduce portal hypertension in those transudate and has a 50% turnover every
patients awaiting transplantation, to relieve hour. Peritoneal fluid is produced by the
intractable ascites and to reduce bleeding visceral capillaries and is drained via the
from rectal, colonic or stomal varices. Shunts diaphragmatic lymphatics. In cirrhotic
can be total, partial or selective. ascites, the pathophysiology is complex.

188 Chapter 13 Hepatobiliary and pancreatic surgery 

Portal hypertension results in splanchnic Investigation

vasodilatation. This results in sodium A diagnostic peritoneal tap allows peritoneal
retention due to alterations in systemic fluid to be sent for analysis. This includes
haemodynamics, neurohumeral control and protein estimation, cytology, bacteriology and
renal function. Impaired free-water excretion biochemistry. A transudate has a total protein
results in dilutional hyponatraemia. Renal less than 30 g/L. Causes of a transudate include
vasoconstriction can result in the hepatorenal cirrhosis and heart failure. An exudate has a
syndrome. total protein more than 30 g/L . Causes of an

Aetiology exudate include carcinomatosis and infection.

The causes of ascites include: Management

• Hepatic – cirrhosis, veno-occlusive Effective treatment of ascites in cirrhosis is
disease difficult. Medical measures include sodium
restriction and diuretics. Spironolactone
.ir/• Cardiac – right ventricular failure, is usually the drug of choice. In those with
constrictive pericarditis ascites refractory to medical therapy options
• Renal – nephrotic syndrome, renal failure include:

s• Malignancy – ovarian, gastric, colorectal • Repeated large-volume paracentesis
carcinoma • Peritoneovenous shunting
• Portocaval shunting
s• Infection – tuberculosis • Transjugular intrahepatic portosystemic

• Pancreatitis shunting
• Liver transplantation
n• Lymphatic – congenital anomaly, trauma
ia• Malnutrition
http://vip.pers• Myxoedema

Chapter 14 Colorectal
surgery

Applied basic sciences medial surface of the caecum and arises below
Anatomy of the large intestine the level of the ileocaecal valve. It is covered in
peritoneum and has a short mesentery known
The caecum and appendix as the mesoappendix. It is related to the
anterior abdominal wall one third of the way
The caecum is situated in the right iliac fossa along a line joining the anterior superior iliac
and lies below the level of the ileocaecal valve. spine and umbilicus (McBurney point). The
It is completely covered with peritoneum. tip of the appendix can be found in various
Peritoneal folds create the superior, inferior positions including hanging down into the
and retrocaecal fossae. Like the remainder of pelvis related to the right pelvic wall, behind
the colon, the caecum has three longitudinal the caecum in the retrocaecal fossa, projecting
bands of muscle knows as the taeniae coli. upward along the lateral side of the caecum
These converge on base of the appendix. The or in front or behind the terminal ileum. The
anterior relations of the caecum include the blood supply is from the appendicular artery a
greater omentum and anterior abdominal branch of the posterior caecal artery.
wall. The posterior relations of the caecum
include the psoas and iliacus muscle and The colon and rectum
femoral nerve. The blood supply is from the
anterior and posterior caecal arteries. These The colon is divided into the ascending,
are terminal branches of the ileocolic artery. transverse, descending and sigmoid colon.
The blood supply of the ascending colon is
The appendix contains a large amount of from the ileocolic and right colic arteries, the
lymphoid tissue. It has a complete covering of proximal transverse colon is from the middle
longitudinal muscle formed from the taeniae colic artery, the distal transverse colon is
coli. The base is attached to the posterior from the superior left colic artery and the

Blood supply of the colon Figure 14.1  Blood supply of the
colon. (Reproduced from Beck DE.
Handbook of Colorectal Surgery,
3rd edn. London: JP Medical Ltd,
2012.)

190 Chapter 14  Colorectal surgery

descending and sigmoid colon is from the The perineum and anal sphincter
inferior left colic artery (Figure 14.1). The
ileocolic, right and middle colic arteries are The anus has two sphincters – internal and
branches of the superior mesenteric artery. external (Figure 14.2). The internal anal
The superior and inferior left colic arteries are sphincter is smooth muscle. The external
branches of the inferior mesenteric artery. sphincter is striated muscle. The mucosa of
The venous and lymphatic drainage follows the upper third of anal canal has no somatic
the blood supply. sensation. The mucosa of the lower two thirds
of the anal canal has somatic innervation
The rectum is about 15 cm long and begins from the inferior rectal nerves. Anal glands
in front of the third sacral vertebra. It passes occur in intersphinteric plane and open at
through pelvic diaphragm and is continuous level of the dentate line.
with anal canal. Peritoneum covers the
anterior and lateral surfaces of the upper The levator ani muscle is a broad, thin
third and the anterior surface only of the muscle, situated on the side of the pelvis. It
middle third of the rectum. The lower third of is attached to the inner surface of the side of
the rectum has no peritoneal covering. The the lesser pelvis and unites with its fellow of
rectum has an outer longitudinal and inner the opposite side to form the greater part of
circular muscle coat. The mucous membrane the floor of the pelvic cavity. It supports the
forms three transverse folds. The blood supply viscera in the pelvic cavity and surrounds the
of the rectum is from the superior, middle and various structures which pass through it. In
inferior rectal arteries. The superior rectal combination with the coccygeus muscle, it
artery is a branch of the inferior mesenteric forms the pelvic diaphragm.
artery. The middle rectal artery is a branch
of the internal iliac artery. The inferior rectal The anal canal above the dentate line is
artery is branch of the internal pudendal supplied by the terminal branches of the
artery. The venous drainage corresponds to superior rectal artery, which is the terminal
the arterial supply. The superior rectal vein branch of the inferior mesenteric artery.
drains into the inferior mesenteric vein. The The middle rectal artery and inferior rectal
middle rectal vein drains into the internal artery supply the lower anal canal. Deep to
iliac vein. The inferior rectal vein drains into the skin of the anal canal lies the external
the internal pudendal vein. The lymphatic haemarrhoidal plexus of veins which drain
drainage is into the pararectal nodes. It into systemic veins. Above the dentate line
follows the superior rectal artery to the lies the internal haemarrhoidal plexus of
inferior mesenteric nodes. veins, which drain into the portal venous
system. The anorectum is, therefore,

Anatomy of the anal canal Figure 14.2  Anatomy of the anal
canal

Circular muscle Longitudinal muscle

Anal Levator
columns ani

Internal Puborectalis
sphincter
Deep external
Dentate sphincter
line
Superficial
external
sphincter
Subcutaneous
external
sphincter

Colorectal disease 191

an important potential portosystemic pathogenesis is unknown and they are not
anastomosis. The lymphatics from the anal pre-malignant.
canal drain into the superficial inguinal
group of lymph nodes. Adenomas

Colorectal disease Adenomas are benign epithelial neoplasms.
Benign colonic polyps They are pre-malignant. The risk of malignancy
increases with size. Malignancy is more
A polyp is a pedunculated lesion. Not common in villous rather than tubular
all polyps are tumours. Not all polypoid lesions. Most adenomas are asymptomatic.
tumours are benign. Not all benign tumours Approximately 10% of the population over
are polypoid. Large bowel polyps can be 45 years have adenomatous polyps. If they
classified as epithelial, mesodermal and do become symptomatic, they usually
hamartomas (Table 14.1). present with bleeding, mucous discharge or a
prolapsing perianal lump. Villous adenomas
Juvenile polyps may produce hypokalaemia but this is rare.
Diagnosis is usually by sigmoidoscopy or
Juvenile polyps are the commonest form colonoscopy. A full colonoscopy is essential
of polyps in children. They can occur to exclude other lesions. Treatment is by
throughout the large bowel but are most transanal excision or colonoscopic snaring.
common in the rectum. They usually present Patients require regular colonoscopic
before 12 years, often with a prolapsing surveillance.
perianal lump or rectal bleeding. They are
not pre-malignant and can be treated by local Colorectal cancer
endoscopic resection.
Colorectal cancer is the second commonest
Peutz–Jeghers syndrome cancer causing death in the UK. There are
20,000 new cases per year and of these 40%
Peutz–Jeghers syndrome is a rare familial are rectal and 60% are colonic tumours. About
condition, inherited as an autosomal 3% patients present with more than one
dominant disorder characterised by tumour (synchronous tumours). A previous
circumoral pigmentation and intestinal colonic neoplasm increases the risk of a
polyps. Polyps are found throughout the gut second tumour (metachronous tumour).
but are more common in the small intestine. Some cases are hereditary. Most are related to
The disorder presents in childhood with environmental factors.
bleeding, anaemia or intussusception. Polyps
can become malignant. Risk factors

Metaplastic polyps Risk factors for sporadic colorectal cancer
(75%) include:
Metaplastic polyps are small plaques,
approximately 2 mm in diameter. The • Older age
• Male sex

Classification of large bowel polyps

Epithelial Mesodermal Hamartomatous

Adenomas – tubular, villous, Lipoma Juvenile polyps
tubulovillous Leiomyoma Peutz–Jeghers syndrome
Metaplastic polyps Haemangioma

Table 14.1  Classification of large bowel polyps

192 Chapter 14  Colorectal surgery

• Cholecystectomy malignant disease. Polyps usually appear
• Ureterocolic anastomosis in the second or third decade of life. It is
• Diet rich in meat and fat associated with:
• Obesity
• Smoking • Duodenal adenomatous polyps
• Inflammatory bowel disease • Upper gastrointestinal malignancy
• History of colorectal polyps • Congenital hypertrophy of the retinal
• History of colorectal cancer
• History of small bowel, endometrial, breast pigment epithelium
• Desmoid tumours
and ovarian cancer • Tumours of the central nervous system,

Familial colorectal cancer (20%) is seen in thyroid and adrenal cortex
first or second degree relatives with cancer
but in whom the criteria for hereditary non- Extra-colonic manifestations include
polyposis colorectal cancer (HNPCC) is not osteomas and epidermoid cysts (Gardener’s
fulfilled. The risk increases as follows: syndrome).

• On first-degree relative increases the risk At risk family member should undergo
by 2.3 genetic testing. Screening can be by either rigid
or flexible sigmoidoscopy. Sigmoidoscopy
• Two or more first degree relatives is a safe alternative to colonoscopy as rectal
increases the risk by 4.3 sparing is rarely seen. Screening should start in
late teens and should continue until 40 years of
• Index case less than 45 years increases the age and polyp free. Affected individuals should
risk by 3.9 have prophylactic surgery. The surgical options
include:
• Family history of colorectal adenoma
increases the risk by 2.0 • Panproctocolectomy and ileostomy
• Restorative panproctocolectomy
Hereditary colorectal cancer (5–10%) is seen • Subtotal colectomy and ileorectal
in the following syndromes:
anastomosis
• Polyposis syndromes – FAP
• Hereditary non-polyposis colorectal The latter option will require surveillance of
the rectal stump for polyps.
cancer (HNPCC)
• Hamartomatous polyposis syndromes Hereditary non-polyposis colorectal
cancers (Lynch syndrome)
Of all adenomas, 70% are tubular, 10% are
villous and 2% are tubulovillous. Most cancers Hereditary non-polyposis colorectal cancers
are believed to arise within pre-existing are a heterogeneous group of familial cancers.
adenomas. The risk of cancer is greatest in They account for 3–5% of colorectal cancers
villous adenomas. A series of mutations and often occur in the right-side of the
results in epithelial changes from normality, colon. Tumours arise from polyps although
through dysplasia to invasion. the widespread polyposis seen in FAP is
not present. Accelerated progression from
Inherited syndromes polyps to cancer occurs. They occur due to
microsatellite instability a result of inheritance
Familial adenomatous of a mutated mismatched repair gene. This
polyposis syndrome increases the risk of the following cancers:

Familial adenomatous polyposis (FAP) is due • Colorectal
to a mutation of a tumour suppressor gene on • Gastric
the long arm of chromosome 5. It is inherited • Endometrial
as an autosomal dominant condition. The • Ovary
mutation induces proliferation of the mucosa • Urothelial
throughout the gastrointestinal tract. FAP
syndrome accounts for less than 1% of all The Amsterdam criteria were developed to
colorectal cancers. Patients have widespread standardise the diagnosis of hereditary non-
colonic polyps that inevitably progress to

Colorectal disease 193

polyposis colorectal cancers and the criteria obstruction a CT scan is the investigation of
are as follows: choice. CT scanning also allows staging of the
disease.
• At least three relatives with colorectal
cancer Management

• One must be a first-degree relative of the Any surgical resection for a colorectal cancer
other two requires 5 cm proximal and 2 cm distal
clearance for colonic lesions (Figure 14.3).
• At least two successive generations should A 1 cm distal clearance of rectal lesions is
be affected adequate if the mesorectum is resected. The
mesorectum is fatty tissue directly adjacent
• One colorectal cancer should be to the rectum that contains blood vessels and
diagnosed before the age of 50 years lymph nodes. The radial margin should be
histopathologically free of tumour if possible.
It is recommended to start colonoscopic Lymph node resection should be performed
screening 5 years before the youngest affected to the origin of the feeding vessel including
relative. an ‘en bloc’ resection of adherent tumours.
The value of a ‘no-touch’ techniques remains
Clinical features unproven. Depending on site of the tumour
Colorectal cancer can present via the the surgical options are:
outpatient clinic or as an emergency.
About 40% of cancers present as a surgical • Caecum, ascending colon, hepatic flexure
emergency with either obstruction or – Right hemicolectomy
perforation. Right-sided colonic lesions may
present with iron deficiency anaemia due • Transverse colon – Extended right
occult blood loss, weight loss or a right iliac hemicolectomy
fossa mass. Left-sided colonic lesions often
present with abdominal pain and alteration • Splenic flexure, descending colon – Left
in bowel habit or rectal bleeding. Emergency hemicolectomy
presentation and management is associated
with a poorer outcome. • Sigmoid colon – High anterior resection
• Upper rectum – Anterior resection
Investigation • Lower rectum – Abdomino-perineal
In elective cases, the diagnosis can be
confirmed by a combination of flexible resection
sigmoidoscopy, colonoscopy or CT scanning.
In patients presenting with large bowel Transanal microsurgery is an option for small
lower rectal cancers. Laparoscopic surgery
is increasingly utilised. Early studies raised

A carcinoma in the sigmoid colon Figure 14.3  A carcinoma in the
sigmoid colon

194 Chapter 14  Colorectal surgery

concerns about port site recurrence. Recent A combination chemotherapy and
studies suggest equivalence in terms of overall radiotherapy may produce better outcome.
and disease-free survival. Laparoscopic surgery
is associated with shorter postoperative Adjuvant chemotherapy
recovery and a reduced hospital stay.
Adjuvant chemotherapy improves survival
The risk of local recurrence following in Duke’s C tumours. It is of no benefit in
surgery for rectal cancer is reduced by Duke’s A tumours which already have a
performing a total mesorectal excision. The good prognosis. Its role in Duke’s B tumours
pelvic peritoneum and lateral ligaments remains to be defined.
are divided. The plane between the visceral
(rectum, mesorectum) and somatic structures Colorectal liver metastases
is dissected. The middle rectal vessels are
divided laterally. The rectal stump should Approximately 20% of patients with colorectal
be washed out with cytocidal fluid (water, cancer will have liver metastases at the time
Betadine) from below. The anastomosis can of their initial presentation. A further 50% of
be either hand-sown or stapled. It can be patients with colorectal cancer, will develop
either a straight anastomosis or a colonic liver metastases in the future. Half of these
pouch can be fashioned. A colonic pouch patients will develop liver metastases within 5
is often a J-pouch which provides a better years of a potentially ‘curative’ resection. The
functional outcome. Consideration should be median survival with liver metastases is about
given to a defunctioning loop ileostomy if the 1 year.
anastomosis is less than 12 cm from the anal
margin. Detection

Duke’s Classification The value of intensive radiological follow-
up after curative resection of colorectal
This was developed by Cuthbert Duke in 1932 cancer is controversial. Ultrasound has a
for rectal cancers and is as follows: limited sensitivity for the detection of liver
metastases and will identify lesions more
• Stage A – Tumour confined to the mucosa than 0.5 cm in diameter. CT has a higher
• Stage B – Tumour infiltrating through the sensitivity and will also allow assessment of
resectability. It is currently recommended
muscle that patients undergoing potentially curative
• Stage C – Lymph node metastases present colorectal resection should be followed up by
CT scanning for at least 2 years. Serial serum
The 5-year survival is 90%, 70% and 30% for tumour marker measurement (CEA) may also
Stages A, B and C respectively. be useful in the detection of metastases.

Adjuvant radiotherapy Management

In patients with rectal cancer, 50% Resectional surgery is the only chance of
undergoing curative resection develop local cure for patients with liver metastases. Only
recurrence. The median survival with local 10% of patients with metastases are suitable
recurrence is less than 1 year. Risk factors for for ‘curative’ hepatic resection. The aim is
local recurrence include: to resect the tumour with more than a 1 cm
margin by segmentectomy, lobectomy or
• Local extent of tumour hepatectomy. Following liver resection the
• Nodal involvement 5-year and 10-year survivals are 35% and
• Circumferential margin status 20%, respectively. The relative indications for
surgical resection are:
The risk of local recurrence can be reduced
by radiotherapy. This can be given either pre • Single lobe involvement
or postoperatively. Preoperative radiotherapy • Less than three lesions without evidence of
is given as short course immediately prior to
surgery and has been shown to: satellite lesions
• No invasion of the inferior vena cava
• Reduce local recurrence • More than 20% of liver can be spared
• Increase time to recurrence
• Increase 5-year survival

Colorectal disease 195

The relative contraindications for surgical either complete cytoreduction with curative
resection are: intent or palliative debulking. Complete
cytoreduction is usually combined with
• Hilar and coeliac nodal involvement intraperitoneal chemotherapy. Careful
• Distant metastases patient selection is required. Complete
• Poor cardiovascular reserve cytoreduction is a major undertaking and
• Preoperative portal vein embolisation – the postoperative mortality is about 5%.
Intra-abdominal sepsis occurs in about 30%
atrophy of segments to be excised patients. Surgery is indicated if complete
• Neoadjuvant chemotherapy removal of tumour is achievable or palliative
debulking will improve quality of life.
Liver metastases can be palliated by:
Debulking involves removal of mucin and
• Cryotherapy tumour bulk. Limited resectional procedures
• Hepatic artery infusion therapy may be performed. The aim of cytoreduction
• Laser photo-coagulation is to remove all the macroscopic disease. No
tumour deposits more than 3 mm should
Pseudomyxoma peritonei be left. This will maximise the effect of
chemotherapy. Six peritonectomy procedures
Pseudomyxoma peritonei is a rare borderline may be necessary including:
malignant condition. There are approximately
100 cases per year in UK. It is more common • Greater omentectomy and splenectomy
in women than men. It is characterised by • Stripping of the left hemidiaphragm
the production of large volumes of mucinous • Stripping of the right hemidiaphragm
ascites. It often presents with advanced • Cholecystectomy and lesser omentectomy
disease and may be associated with ovarian • Distal gastrectomy
or appendicular pathology. Depending on • Pelvic peritonectomy and anterior
the degree of cytological atypia, the pathology
has been classified as either disseminated resection
peritoneal adenomucinosis or peritoneal
mucinous carcinomatosis. Intraperitoneal chemotherapy

Clinical features Systemic chemotherapy if of limited value in
The clinical features of pseudomyxoma pseudomyxoma peritonei. Intraperitoneal
peritonei are those of raised intra-abdominal chemotherapy may be beneficial and should
pressure including bloating, an abdominal be give after adequate cytoreduction. It
wall hernia and a uterovaginal prolapse. There is of limited benefit if significant residual
may be features mimicking appendicitis. disease exists. Intraoperative Mitomycin C
Patients may have a palpable abdominal mass. is followed by postoperative 5-flurouracil.
There may be features of advanced malignancy Chemotherapeutic agents are heated to 41°C
including anorexia, weight loss and ascites. as heat seems to have a synergistic effect to
the drugs. It does, however, increases the risk
Investigation of fistula formation and anastomotic leak.
Abdominal CT is the first line investigation
of choice. An omental cake is often apparent. Anal carcinoma
Scalloping of the diaphragmatic surface
of the liver is characteristic. Segmental Anal carcinoma is a relatively uncommon
narrowing of the small bowel is a poor tumour. However, the incidence appears to
prognostic sign. Patients are often anaemic. be increasing. There are about 300 cases per
Serum inflammatory markers can be raised. year in the UK and they account for 4% of
Tumours markers (CEA, CA19.9 and CA125) anorectal malignancies.
are often elevated.
Aetiology
Management
The management of pseudomyxoma Anal carcinoma is more common in
peritonei is controversial. Surgery consists of homosexuals. It is also increasingly seen in
those with genital warts. Patients with genital

196 Chapter 14  Colorectal surgery

warts often develop intraepithelial neoplasia disease requiring radical abdominoperineal
which appears to be a premalignant resection. Now, most patients are managed
condition. The natural history of this with radiotherapy. The role of chemotherapy
premalignant state is, however, unknown. is currently being investigated. Radiotherapy
Human papilloma virus (types 16, 18, 31 is given to both the primary tumour and
and 33) is an important aetiological factor. the inguinal nodes. About 50% of patients
Approximately 50% of anal tumours contain respond to treatment and over 5-year survival
viral DNA. is 50%. Surgery should be considered for:

Pathology • Tumours that fail to respond to
radiotherapy
Approximately 80% of anal cancers are
squamous cell carcinomas. Other rare tumour • Large tumours causing gastrointestinal
types include melanoma, lymphoma and obstruction
adenocarcinoma. Tumour behaviour depends
on its anatomical site. Anal margin tumours • Small anal margin tumours without
are usually well differentiated, keratinising sphincter involvement
lesions. They are more common in men and
have a good prognosis. Anal canal tumours Diverticular disease
arise above the dentate line. They are usually
poorly differentiated and non-keratinising Colonic diverticulae are outpouchings of
lesions. They are more common in women the colonic wall. They usually result from
and have a worse prognosis. Tumours above herniation of the mucosa through the
the dentate line spread to the pelvic lymph muscular wall and occur at sites where
nodes. Tumours below the dentate line mesenteric vessels penetrate the bowel wall.
spread to the inguinal nodes. They are most common in the sigmoid colon.
The prevalence increases with age. It affects
Clinical features 10% of the population at 40 years and 60% of
the population at 80 years. It is more common
The diagnosis can difficult and about 75% in developed countries.
of tumours are initially misdiagnosed as
benign lesions. About 50% of patients present Pathology
with perianal pain and bleeding. Only
25% of patients have identified a palpable Diverticular disease is believed to result
lesion. In about 70% of patients, the anal form a lack of dietary fibre commonly seen
sphincter is involved. This can result in faecal in Western diets. Low dietary fibre results
incontinence. Neglected tumours can cause in low stool bulk. This induces increased
a rectovaginal fistula. The inguinal lymph segmentation of the colonic musculature
nodes may be enlarged but only 50% of resulting in hypertrophy. Increased
patients with palpable inguinal nodes have intraluminal pressure results in herniation of
metastatic disease. the mucosa at sites of weakness of the colonic
musculature. Complications of diverticular
Investigation disease include:

Rectal examination under anaesthetic • Diverticulitis
and biopsy is the most useful ‘staging’ • Pericolic abscess
investigation. Endoanal ultrasound is often • Purulent peritonitis – due to rupture of a
impossible due to pain. Abdominal and
pelvic CT or MRI can be used to assess pelvic pericolic abscess
spread. • Faecal peritonitis – due to free perforation

Management of a diverticulum
• Fistula – to vagina, bladder or skin
The management of anal carcinoma has • Colonic stricture
significantly changed over the last 15
years. It was once considered a ‘surgical’ Inflammation of a segment of diverticular
disease results in acute diverticulitis. If the
lumen of an inflamed diverticulum becomes
obstructed then a pericolic abscess may
form. Intraperitoneal rupture of an pericolic

Colorectal disease 197

abscess can result in purulent peritonitis. the cautious use of laxatives. In patients
Intraperitoneal rupture of an inflamed with acute diverticulitis, the bowel should
diverticulum, allowing direct communication be ‘rested’ by restricting oral intake and
between the lumen and peritoneal cavity, can the use of intravenous fluids. Intravenous
result in faecal peritonitis. A fistula can form antibiotics should be administered and active
if there is rupture into an adjacent organ such observation maintained for the development
as the bladder or vagina. of complications.

Clinical features If pericolic abscess formation occurs, then
percutaneous drainage under radiological
Uncomplicated diverticular disease is guidance is usually possible. Subsequent
often asymptomatic or at worse causes elective resection and primary anastomosis
intermittent left iliac fossa pain. There may is often required. Patients who develop
be a tendency towards constipation. Acute generalised peritonitis invariably require
diverticulitis usually presents with more emergency surgery. Sigmoid resection and
severe and persistent left iliac fossa pain. an left iliac fossa end colostomy (Hartmann’s
The patient may be pyrexial and tachycardic procedure) is usually required. The
and on examination they may have left iliac postoperative mortality is high especially
fossa tenderness with signs of peritonism. A (about 40%) in those with faecal peritonitis.
diverticular abscess often causes prolonged
left iliac fossa pain associated with signs Inflammatory bowel disease
of systemic sepsis and swinging pyrexia.
Both purulent and faecal peritonitis cause Colonic inflammation is common and the
generalised abdominal pain and signs of causes include:
generalised peritonitis. Patients are more
likely to have features of severe sepsis with • Infection – bacteria, viruses, parasites
faecal peritonitis. A colovesical fistula • Ulcerative colitis
usually presents with recurrent urinary tract • Crohn’s disease
infections and pneumaturia – the passage of • Radiation enteritis
air per urethra. A colovaginal fistula usually • Ischaemic colitis
presents with the passage of faeces from • Microscopic colitis
the vagina. A colonic stricture presents with • Drug-induced colitis
features of large bowel obstruction, often
against the background of repeated episodes Epidemiology
of acute diverticulitis.
Inflammatory bowel disease has a bimodal
Investigation age distribution with peaks in adolescence and
the elderly. Ulcerative colitis is more common
A plain abdominal x-ray with positive than Crohn’s disease with a prevalence of 80
diagnostic features (e.g. free intraperitoneal and 40 per 100,000 population, respectively.
gas or gas in the bladder) is a useful The incidence of both conditions is increasing,
examination but a normal abdominal x -ray possibly due to increased recognition.
can not exclude complications of diverticular Ulcerative colitis is slightly more common in
disease. An abdominal CT with intravenous men. Crohn’s disease is slightly more common
and rectal contrast may be useful for imaging in women. Both diseases tend to occur in
abscesses or fistulae and identifying the site higher socio-economic groups.
of perforation. A flexible sigmoidoscopy may
be required to differentiate a benign and Pathophysiology
malignant colonic stricture.
Crohn’s disease and ulcerative colitis
Management have some pathophysiological features in
common. They both result from inappropriate
Minimally symptomatic diverticular activation of the mucosal immune system.
disease should be managed by dietary This process seems to be driven by the normal
modification, stool bulking agents and luminal bacteria flora. The pathological
processes may result from defective barrier

198 Chapter 14  Colorectal surgery

function of the intestinal epithelium. Genetic Systemic features include tachycardia, fever,
factors contribute to the susceptibility as anaemia, hypoalbuminaemia. Disease can be
demonstrated by a variable prevalence categorised as:
in different populations and increased
incidence in first degree relatives, increased • Mild – Less than 4 stools per day.
concordance in monozygotic twins and Systemically well
concordance in site and type of disease in
affected families. Possible environmental • Moderate – More than 4 stools per day.
factors include smoking, and the use of Systemically well
anti-inflammatory drugs. The pathological
features of ulcerative colitis and Crohn’s • Severe – More than 6 stools per day.
disease are summarised in Table 14.2. Systemically unwell

Clinical features of ulcerative colitis Clinical features of Crohn’s disease

In 30% of patients with ulcerative colitis, the The clinical features of Crohn’s disease
disease is confined to the rectum. However, depends on the site of disease. About 50%
15% of patients develop more extensive of patients have ileocaecal disease and
disease over a 10-year period. About 20% 25% present with colitis. Extraintestinal
patients have total colonic involvement from manifestations may occur and systemic
the outset. Patients generally fall into the features are more common than in ulcerative
following categories: colitis. Extraintestinal manifestations
associated with disease activity affect the skin,
• Severe acute colitis joints, eyes and liver. They include erythema
• Intermittent relapsing colitis nodosum, pyoderma gangrenosum, an
• Chronic persistent colitis asymmetrical non-deforming arthropathy,
• Asymptomatic disease anterior uveitis, episcleritis, conjunctivitis and
acute fatty liver. Extraintestinal manifestations
Assessment of disease severity depends unrelated to disease activity include sacroiliitis,
on measurement stool frequency and ankylosing spondylitis, primary sclerosing
observation of the systemic response. cholangitis, cholangiocarcinoma, chronic
active hepatitis, amyloid and nephrolithiasis.

Pathological features of inflammatory bowel disease

Ulcerative colitis Crohn’s disease
Lesions continuous – superficial
Rectum always involved Lesions patchy – penetrating
Terminal ileum involved in 10% Rectum normal in 50%
Granulated ulcerated mucosa Terminal ileum involved in 30%
No fissuring Discretely ulcerated mucosa
Normal serosa Cobblestone appearance with fissuring
Muscular shortening of colon Serositis common
Fibrous strictures rare Fibrous shortening
Fistulae rare Strictures common
Anal lesions in <20% Enterocutaneous or intestinal fistulae in 10%
Anal lesions in 75%
Malignant change well-recognised Anal fistulae and chronic fissures
Possible malignant change

Table 14.2  Pathological features of inflammatory bowel disease

Colorectal disease 199

Investigation Corticosteroids

In patients presenting with acute colitis, Corticosteroids are often used in those in
lower gastrointestinal endoscopy is the whom 5-ASA therapy is inadequate. They
investigation of choice. It confirms the are also used in those presenting with acute
presence of colitis, allows assessment of the severe disease. They can be given orally,
extent of disease and biopsies can be taken to topically or parenterally. Their use should
possibly differentiate ulcerative colitis from be limited to acute exacerbations of disease.
Crohn’s disease. Ulcerative colitis is usually They are of no proven value as maintenance
confluent, extending proximally from the therapy in either ulcerative colitis or Crohn’s
rectum. Crohn’s disease may be patchy with disease and their use must be balanced
‘skip lesions’. Caution should be exercised against potential side effects.
in performing a colonoscopy in those with
severe disease. The endoscopic grading of Immunosuppressive agents
ulcerative colitis is as follows:
Immunosuppressive and immunomodulatory
• 0 – Normal agents are often used in those in whom
• 1 – Loss of vascular pattern or granularity steroids can not be tapered or discontinued.
• 2 – Granular mucosa with contact bleeding Agents used include:
• 3 – Spontaneous bleeding
• 4 – Ulceration • Azathioprine
• Methotrexate
In those with severe colitis, investigation • Cyclosporin
of the degree of systemic inflammation is • Infliximab
important. Useful markers are haemoglobin,
white cell count, serum albumin and Surgery for ulcerative colitis
C-reactive protein. A plain abdominal x-ray is
useful is there is suspected toxic megacolon Approximately 20% of patients with ulcerative
or perforation. colitis will require surgery at some time and
30% of those with total colitis will require
Management a colectomy within 5 years. Surgery may
be required as an emergency. Emergency
The management of inflammatory bowel indications include:
disease depends on the type and site of
disease and its severity. Different drugs may • Toxic megacolon
be used for those with active disease and • Perforation
those in remission. • Haemorrhage
• Severe colitis failing to respond to medical
5-Aminosalicylic acid
treatment
5-aminosalicylic acid (5-ASA) is used in
mild to moderate ulcerative colitis and Elective indications include:
Crohn’s disease. It blocks the production
of prostaglandins and leukotrienes. • Chronic symptoms despite medical therapy
Sulfasalazine was the first agent described. • Carcinoma or high-grade dysplasia
Now compounds are available that release
5-ASA at the site of disease activity. In an emergency, often the only option
Mesalazine is 5-ASA conjugated in such appropriate is a subtotal colectomy with
a way so as to prevent absorption in the ileostomy and mucus fistula formation. For
small intestine. Topical preparations may elective surgery, the options include:
be used in those with left-sided colonic
disease. Maintenance therapy is of proven • Panproctocolectomy and ileostomy
benefit in those with ulcerative colitis but is • Subtotal colectomy and ileorectal
of unproven benefit in those with Crohn’s
disease. anastomosis
• Restorative proctocolectomy with ileal

pouch formation.

A subtotal colectomy and ileorectal
anastomosis maintains continence but
proctitis often persists within the rectal stump.

200 Chapter 14  Colorectal surgery

For a restorative proctocolectomy, the patient Surgery for Crohn’s disease
needs adequate anal musculature. The need
for a defunctioning ileostomy following a Absolute indications for surgery in Crohn’s
proctocolectomy is unresolved. The functional disease include:
results of restorative proctocolectomy are
often good but the morbidity can be high. The • Perforation with generalised peritonitis
mean stool frequency is six times per day. • Massive haemorrhage
Perfect continence is achieved during the day • Carcinoma
in 90% patients and at night in 60% of patients. • Fulminant or unresponsive acute severe
Gross incontinence occurs in 5%. About 50%
of patients develop significant complications colitis
including small bowel obstruction, pouchitis,
genitourinary dysfunction, pelvic sepsis, Elective indications for surgery in Crohn’s
pouch failure and anal stenosis. Larger disease include:
capacity pouches reduce the stool frequency
(Figure 14.4). • Chronic obstructive symptoms
• Chronic ill health or debilitating

diarrhoea
• Intra-abdominal abscess or fistula
• Complications of perianal disease

Ileoanal pouch design Figure 14.4  Ileoanal pouch design

Triplicated ‘S’ Duplicated’J’

Isoperistaltic Four loop ‘W’

Perianal disease 201

Surgery should be as conservative as possible. Anorectal fistulae can be classified as:
There is no evidence that increased resection
margins reduce the recurrence rate. If • Intersphinteric
possible, the preoperative nutritional state • Transphinteric
of the patient should be improved prior to • Suprasphinteric
surgery. The best surgical option is limited • Extrasphinteric
resection. About 30% of patients undergoing
ileocaecal resection require further surgery Clinical features
later in life. Strictureplasty is often successful
and bypass procedures are rarely required. Anorectal abscesses usually present as painful
perianal lumps. Patients may give a history
Perianal disease of a previous lump, at the same site, that may
Anorectal sepsis have discharged spontaneously. Examination
may show a fluctuant lump close to the anal
Aetiology margin. Some patients, particularly those
with an intersphinteric abscess, may present
An abcess is a localised collection of pus. A with severe anal pain with no visible signs
fistula is an abnormal communication between of an abscess. Rectal examination is often
two epithelial surfaces. Anorectal fistulae impossible due to anal spasm. Patients with
occur between the anal or rectal mucosa ischiorectal fossa abscess often have clinical
and the perianal skin (Figure 14.5). Most features of severe sepsis.
anorectal abscesses and fistulae are believe
to arise from infections of the anal glands in An anorectal fistula usually presents with
the intersphinteric space. The anal glands a recurrent perianal purulent discharge.
are found at the level of the dentate line. This The site of the external opening may give an
theory of origin is known as the cryptoglandular indication of the site of the internal opening.
hypothesis. Depending on the route and extent Goodsall’s Rule states than an external
of sepsis, abscesses can classified as: opening situated behind the transverse
anal line will open into the anal canal in the
• Perianal midline posteriorly. An anterior opening is
• Ischiorectal usually associated with a radial tract. The
• Intersphinteric rule is not absolute and sometimes the path
• Supralevator of the fistula can be complex (Figure 14.6).
Extrasphinteric fistulae are not always

Anatomy of perianal fistulae Figure 14.5  Anatomy of perianal
ab fistulae: (a) intersphincteric
fistula; (b) trans-sphincteric
fistula; (c) suprasphincteric
fistula; (d) extrasphincteric fistula.
(Reproduced from Beck DE.
Handbook of Colorectal Surgery,
3rd edn. London: JP Medical Ltd,
2012.)

cd

202 Chapter 14  Colorectal surgery

associated with intersphinteric sepsis A low fistula can often simply be laid open
and consideration should be given to the with either a fistulotomy or fistulectomy. A
possibility inflammatory bowel disease or high fistula requires staged surgery, often
neoplasia as the underlying cause. with the placement of a seton. A seton is a
non-absorbable suture or surgical-grade
Management cord of material passed along the fistula
tract, out through the anus and tied loosely
The initial surgery for anorectal sepsis should to encourage drainage. The seton may be
simple and usually requires no more than sequentially tightened to ‘cut through’ tissue
incision and drainage of an acute abscess. An and allow healing of the tract. In some
inexperienced surgeon should avoid looking patients, an anorectal advancement flap may
for a fistula at the time of the initial surgery be considered to allow early wound healing.
as, in the presence of acute inflammation, this
may result in damage to the anal sphincter. Haemorrhoids
If there is clinical suspicion of an underlying
fistula, this can be further assessed by MRI Haemorrhoids are dilated veins in the lower
or a subsequent elective admission for an rectum and anal canal. They affect 50% of
examination under anaesthetic. About 80% the population over the age of 50 years. The
of recurrent abscesses are associated with a following factors appear to be important in
fistula. Deferred elective surgery has less risk their aetiology:
of damage to the sphincter.
• Dilatation of venous plexus
In those with an anorectal fistula, the • Distension of arterio-venous anastomoses
puborectalis muscle is the key to future • Displacement of the anal cushions
continence and damage to this and the
other sphincter muscles should be avoided. About 80% of patients have high resting anal
pressures.

Anatomical basis of Goodsall’s rule Figure 14.6  Anatomical basis of
Goodsall’s Rule. (Reproduced from
Beck DE. Handbook of Colorectal
Surgery, 3rd edn. London: JP
Medical Ltd, 2012.)

Curved tracts Exception
Transverse line
3 cm
Straight tracts

Perianal disease 203

Clinical features • Reduced operating time
• Less postoperative pain
Haemorrhoids usually presents with • Shortened hospital stay
painless, bright red rectal bleeding, a • More rapid return to normal activity
prolapsing perianal lump or acute pain due
to thrombosis. Faecal soiling or pruritus ani Thrombosed external haemorrhoids can
may occur. Haemorrhoids are often classified be managed conservatively. If the pain is
as internal or external. Internal haemorrhoids intense, the haematoma can be evacuated
arise above the dentate line and can be sub- under local anaesthesia.
classified as:
Anal fissures
• First degree – bleeding only
• Second degree – prolapse but reduce An anal fissure is a break in the skin of the anal
canal often occurring as a result of mucosal
spontaneously ischaemia secondary to muscle spasm.
• Third degree – prolapse but can be pushed They were previously regarded as a ‘tear’ in
the skin due to the passage of a hard stool
back – pecten band theory. This theory has been
• Fourth degree – permanently prolapsed largely discounted. About 5% are associated
with a chronic intersphinteric abscess. Most
External haemorrhoids occur below the acute fissures heal spontaneously. Chronic
dentate line and usually present as a perianal fissures, with symptoms more than 6 weeks in
lump that my become painful if the tissue duration, are associated with increased intra-
becomes thrombosed. anal pressure. Treatment is aimed at reducing
the anal sphincter pressure.
Management
Clinical features
All patients should be advised to have a
high residue diet. Local preparations and Anal fissures usually present with pain on
creams rarely produce long-term clinical defecation, bright red bleeding and pruritus
benefit. Outpatient treatment options for first ani. They are seen most commonly between
and second degree internal haemorrhoids 30 and 50 years of age. About 90% are in
include injection with 5% phenol in arachis the posterior midline. About 10% are in the
or almond oil or rubber band ligation. The anterior midline. Anterior fissures are more
latter may have better long-term outcomes. common in women especially post partum.
Surgical options include further banding and The fissure is often visible on parting of the
haemorrhoidectomy. Haemorrhoidectomy buttocks and is seen above a ‘sentinel pile’ – a
is usually performed as an open procedure small skin tag. Features of chronicity include:
(Milligan–Morgan).
• Symptoms for more than 6 weeks
Haemorrhoidectomy is the treatment of • Papilla
choice for 3rd degree haemorrhoids. The • Undermined edges
haemorrhoidal tissue is excised with skin- • Visible internal sphincter
bridges maintained between each wound.
The incidence of secondary infection and the If multiple fissures are seen or the fissure is at
severity of postoperative pain may be reduced an unusual site, it is necessary to consider a
with oral metronidazole. Botulinum toxin diagnosis of:
injection may also reduce postoperative pain.
Complications of haemorrhoidectomy include: • Crohn’s disease
• Syphilis
• Bleeding (3%) • Tuberculosis
• Urinary retention (10%)
• Anal stenosis may develop if adequate skin Management

bridges are not maintained Stool bulking agents and topical local
anaesthesia produces symptomatic
Other haemorrhoidectomy techniques improvement. About 50% of acute fissures
include closed or stapled procedures. The will heal with this treatment. The use of 0.2%
recently described stapled technique is
associated with:

204 Chapter 14  Colorectal surgery

GTN ointment for treatment of fissures has Pilonidal sinus
recently been shown to be beneficial. GTN is
a nitric oxide donor that relaxes the internal A pilonidal sinus is a subcutaneous sinus
anal sphincter. It induces a ‘reversible chemical containing hair. It is lined by granulation tissue
sphincterotomy’ and reduces the anal resting rather than epithelium and most commonly
pressure by 30–40 %. Its use heals more than occurs in the natal cleft (Figure 14.7). Pilonidal
70% fissures by 6 weeks with about a 10% risk of sinuses are also occasionally seen in the
early recurrence. The commonest side-effect of interdigital clefts, in barbers, and in the axilla.
GTN is headache. Botulinum toxin can also be A pilonidal sinus is generally believed to be an
used to produce a chemical sphincterotomy. acquired condition. Inflamed hair follicles in
the cleft result in abscess or sinus formation.
Surgery should be considered the last Hair becomes trapped in the cleft and enters
resort in the management of anal fissures the sinuses. This results in a foreign body
as it is associated with a high risk of faecal reaction which perpetuates sinus formation.
incontinence. Following surgery, 95% achieve
prolonged symptomatic improvement Clinical features
but 20% of patients have some degree of
incontinence (faecal soiling or incontinence Pilonidal sinuses are usually seen in young
of flatus). Anal dilatation or internal adults and are rare after the age of 40 years.
sphincterotomy are the two most common The male:female ratio is 4:1. About 80%
procedures. Sphincterotomy is more effective present with recurrent pain and 80% present
and has a reduced risk of incontinence. with a purulent discharge from the natal cleft.
Lateral sphincterotomy is preferred. Posterior
sphincterotomy or fissurectomy should be Management
avoided.
Surgery is the treatment of choice.
A pilonidal sinus in the natal cleft Consideration should be given to injection
of methylene blue to identify all of the tracts.
Figure 14.7  A pilonidal sinus in the natal cleft Antibiotic prophylaxis may be of benefit. The
surgical options available include:

• Excision and healing by secondary
intention

• Excision and primary closure
• Lord procedures
• Phenol injections
• Skin flap procedures (e.g. Karydakis

procedure)

Excision and healing by secondary intention
requires regular wound dressing and shaving.
This can produces about 70% healing at 70 days
but the recurrence rate is about 10%. Excision
and primary closure produces 70% healing at
2 weeks but 20% of patients develop a wound
infection. Lord procedure involves excision of
pits, removal of hair and brushing of tracts. Skin
flap procedures aim to excise the sinus, flatten
the natal cleft and keep the resulting scar away
from the midline (Figure 14.8). In expert hands
it produces good results and failure rates as low
as 5% have been reported.

Rectal prolapse

A complete rectal prolapse is a full thickness
prolapse of the rectum through the anus.

Perianal disease 205
Karydakis procedure for a pilonidal sinus

Figure 14.8  Karydakis procedure for a pilonidal sinus.

It contains two layers of the rectal wall and diagnosis in an adult is haemorrhoids, a
has an intervening peritoneal sac. It usually prolapsing rectal tumour or anal polyp and
occurs in elderly adults. The female to male abnormal perineal descent.
ratio is approximately 6:1. It is invariably
associated with weak pelvic and anal Management
musculature. The sigmoid colon and rectum
are often floppy and redundant. Many patients with a complete prolapse
are elderly and too frail for surgery. They
An incomplete rectal prolapse is limited should be given bulk laxatives and carers
to the rectal mucosa. It occurs in both taught how to reduce the prolapse. Urgent
children and adults and is often associated treatment is however required if the prolapse
with excessive straining, constipation and is irreducible or ischaemic. If the patient is fit
haemorrhoids. In children, it is associated for surgery, the operation can be performed
with cystic fibrosis. A concealed prolapse is via either a perineal or abdominal approach.
an internal intussusception of the upper into Abdominal procedures may be performed
the rectum. The prolapse does not emerge laparoscopically. Perineal options include:
through the anus.
• Perineal sutures (Thiersch procedure)
Clinical features • Delorme procedure
• Perineal rectopexy
Rectal prolapse occurs in the extremes of life.
A rectal prolapse in a child is usually noted Abdominal or sacral options include:
by parents and need to be differentiated
from colonic intussusception and a • Abdominal rectopexy
juvenile rectal polyp. In adults, it usually • Anterior resection rectopexy
presents with a prolapsing anal mass after
defaecation. It may be reduce spontaneously In children, improvement of incomplete
or manually. Bleeding, mucus discharge rectal prolapse is often seen with dietary
or incontinence may be troublesome. advice and the treatment of constipation.
Examination usually shows poor anal tone Surgery is rarely required. In adults,
and the prolapse may be visible on straining. the management is similar to that of
Most prolapses that are longer than 5 cm haemorrhoids. This includes injection
in length are complete. The differential sclerotherapy, mucosal banding or formal
haemorrhoidectomy. Occasionally an anal
sphincter repair is required.



Chapter 15 Breast disease

Applied basic sciences • Vessels to serratus anterior
• Lateral thoracic artery
Breast anatomy • Intercostal perforators

The breast is made up of both fatty and The sensory innervation of the breast is
glandular tissue (Figure 15.1) the ratio dermatomal in nature. It is derived from the
of varies amongst individuals and the anterolateral and anteromedial branches of
proportions change with age. After the thoracic intercostal nerves. Supraclavicular
menopause, the relative amount of fatty nerves from the lower fibers of the cervical
tissue increases as the glandular tissue plexus also provide innervation to the
diminishes. The base of the breast overlies upper and lateral portions of the breast. The
the pectoralis major muscle between the sensation to the nipple is from the lateral
second and sixth ribs. The gland is fixed to cutaneous branch of T4.
the pectoralis major fascia by the suspensory
ligaments, first described by Astley Cooper Breast disease
in 1840. These ligaments run throughout Assessment of breast disease
the breast tissue parenchyma from the deep
fascia beneath the breast and attach to the The commonest symptoms of female breast
dermis of the skin. disease are:

The blood supply to the breast skin is • A breast lump
based on the subdermal plexus, which • Breast pain
communicates with deeper vessels supplying • Nipple discharge
the breast parenchyma. The blood supply is • Nipple retraction
derived from the: • Axillary lymphadenopathy

• Internal mammary perforators Most symptomatic breast cancers present as
• Thoracoacromial artery a painless lump. Breast pain is an uncommon

Breast anatomy Figure 15.1  Breast anatomy

Fat lobule Deep
Areola pectoral fascia
2nd rib
Nipple
Lactiferous Pectroralis
major
sinus
Intercostal
muscles

Lactiferous duct

208 Chapter 15  Breast disease

presentation of breast cancer. Assessment of masses include fibroadenomas, cysts,
most breast problems is by triple assessment mucinous or medullary carcinoma and
comprising of: lipomas. Microcalcification is due to debris
within the duct wall or lumen and is the sole
• A clinical history and examination feature of 33% of screen-detected cancers.
• A radiological assessment – Malignant microcalcification is usually linear
or branching. Benign microcalcification is
mammography or ultrasound usually rounded and punctuate. Causes of
• A pathological assessment – cytology or microcalcification include DCIS, invasive
cancer, papillomas, fibroadenomas and fat
biopsy necrosis.

Each aspect of the triple assessment is Breast ultrasound
reported as:
Ultrasound is useful in the assessment of
• 1 = Normal breast lumps. It complements mammography
• 2 = Definitely benign and is able to differentiate solid and cystic
• 3 = Probably benign lesions. It is also able to guide fine needle
• 4 = Suspicious of malignancy aspiration and core biopsies. It can be
• 5 = Definitely malignant used to assess tumour size and response to
Clinical assessment, radiology, cytology therapy. In the diagnosis of malignancy, it
and biopsy is given the prefix P, R, C and B has a sensitivity and specificity of 75% and
respectively. In the pathological assessment, 97%, respectively. Cysts and solid lesions
B5a is DCIS and B5b is invasive cancer. Each have typical appearances. On ultrasound
aspect of the triple assessment needs to be examination, cysts have smooth walls,
considered in reaching an overall diagnosis. sharp anterior and posterior borders and
hypoechoic centres without internal echoes.
Breast imaging Solid lesions have internal echoes. Malignant
tumours have hypoechoic areas, irregular
The breast can be imaged with edges and cast hypoechoic shadows. Benign
mammography, ultrasound or MRI. tumours have isoechoic or hypoechoic
Mammography is the most sensitive of breast patterns, smooth walls, well defined borders
imaging modalities but sensitivity is reduced and cast no shadows.
in young women due to the presence of
increased glandular tissue. For symptomatic Breast MRI
patients, breast imaging should always be
performed as part of a triple assessment. Breast MRI is a recently developed technique
and has a high sensitivity for multifocal
Mammography carcinoma. It has low specificity. Lesions
detected by MRI need further assessment by
Abnormalities detected on mammography ultrasound and biopsy. Uses of breast MRI
are classified as: include:

• Spiculate masses • Assessing the size of breast cancers
• Stellate lesions • Determining the focality of lobular cancers
• Circumscribed masses • Imaging the breast for occult disease in
• Microcalcification
presence of axillary metastases
Spiculate masses appear as soft tissue mass • Differentiating between scar tissue and
with spicules extending into surrounding
tissue. About 95% of spiculate masses are recurrence
due to invasive cancer. Other causes of • Assessment of breast implants
a spiculated masses include radial scar/
complex sclerosing lesion and fat necrosis. Fine needle aspiration
Stellate lesions are localised distortion of the and core biopsy
breast parenchyma with no perceptible mass
lesion. Other causes of stellate lesions include Fine needle aspiration (FNA) is performed
radial scar and surgical scars. Circumscribed without anaesthesia using an 18 Fr needle
masses should be analysed according to density,
outline and size. Causes of well-circumscribed

Breast disease 209

and 10 mL syringe. Gentle suction is applied disease, implying a pathological process.
whilst the needle is advanced and withdrawn Aberrations of normal development and
through the lesion. In the management of involution (ANDI) is now the preferred term
cysts, FNA will allow the cyst to be drained. used to describe most benign breast diseases
In the assessment of a solid lesion, FNA (Table 15.1). It is based on the fact that
allows tissue to be obtained for cytological most benign breast disorders are relatively
assessment. The material is washed from the minor aberrations of the normal processes
hub of the needle into an alcohol-containing of development, cyclical hormonal response
solution for fixation. The specimen is then and involution.
centrifuged, applied to a microscope slide
and stained. Breast pain

A core or Tru-cut needle biopsy is Breast pain or mastalgia is the commonest
obtained under local anaesthesia. A core reason for referral to a breast clinic and
of tissue is removed from the lesion and accounts for 50% of all referrals. Only 7% of
fixed in formalin. It is be submitted for patients with breast cancer report breast pain.
histopathological assessment. A core biopsy Assessment may be helped by the keeping of
allows more information to be obtained a breast pain chart. The pain can be divided
about the lesion then with FNA but the risks into cyclical and non-cyclical mastalgia.
associated with the procedure are higher.
The procedure can result in quite extensive Cyclical mastalgia
bruising. Rare complications include a
pneumothorax. Cyclical mastalgia is usually bilateral, affects
the upper outer quadrant, is mostly minor and
Benign breast disease accepted by many women as ‘part of normal
life.’ The average age of onset is about 24 years.
Benign breast conditions are practically a No consistent hormonal abnormality has been
universal phenomenon. Previously there identified. Prolactin levels may be increased.
was a tendency to include all benign breast Essential fatty acid profiles may be abnormal.
disorders under the designation of fibrocystic No evidence of psychopathology has been
demonstrated. In those with no palpable mass

Classification of benign breast disease

Normal Benign disorder Benign disease

Development Duct development Nipple inversion Mammary fistula
Lobular development Fibroadenoma Giant fibroadenoma
Cyclical change Stromal development Adolescent hypertrophy
Epithelial activity Hormonal activity  
Pregnancy and lactation Mastalgia and nodularity
Involution  
  Benign papilloma
Lobular involution Epithelial hyperplasia Galactocele
Bloodstained discharge Periductal mastitis
Ductal involution
Duct ectasia Lobular and ductal
Cysts nipple retraction hyperplasia with
Sclerosing adenosis atypia
Involutional epithelial Hyperplasia
hyperplasia Micropapillomatosis

Table 15.1  Classification of benign breast disease

210 Chapter 15  Breast disease

no imaging is required. history. Over a 5-year period, 50% increase
in size, 25% remain stable and 25% decrease
Treatment in size. The risk of malignant transformation
is approximately 1 in 1000 and the resulting
Most women require no treatment other carcinoma is often a lobular carcinoma.
than simple reassurance. Treatment should Most fibroadenomas do not require surgical
be considered if symptoms persist for more excision but this should be considered with
than 6 months for more than 7 days per increasing age, particularly if there is any
cycle. Evening primrose oil is often used, but discord between the various aspects of the
there is little scientific evidence to support triple assessment.
its use. It requires treatment for at least 4
months and can result in a 50% response Giant fibroadenoma
rate. Complications are rare with about 1%
of patients developing nausea. Danazol Giant fibroadenomas have a bimodal age
has an 80% response rate but 25% patients presentation in teens and the premenopausal.
develop complications including acne, They are more common in Afro-Caribbeans
weight gain and hirsutism. Patients taking and Orientals. They rapidly grow to a
Danazol require mechanical contraception. large size. They present with pain, breast
Bromocriptine has a 50% response rate with enlargement, nipple displacement and
20% patients developing complications characteristically have shiny skin changes
including postural hypotension. Tamoxifen with dilated veins. Treatment should
is effective at reducing breast pain but it is involve enucleation through a cosmetically
not licensed for use in mastalgia. Diuretics or appropriately sited scar. Any resulting breast
progestogens are not advised. distortion is usually self-correcting. There is
no evidence that these tumours recur.
Non-cyclical mastalgia
Phyllodes tumour
Non-cyclical mastalgia usually affects older
women. The average age of onset is 45 Phyllodes tumours occur in premenopausal
years and it is usually unilateraland is often women. They show a wide spectrum of
localised. True non-cyclical mastalgia often activity, varying from benign to locally
has a musculoskeletal cause. Treatment aggressive. They have both a cellular and
should involve a supportive bra and anti- fibrous element and can be classified as
inflammatory analgesia. benign, borderline and malignant. They
should be excised with 1 cm margin of
Fibroadenomas normal tissue and re-excision or mastectomy
should be considered for local recurrence.
Fibroadenomas are derived from the Malignant phyllodes tumours usually do not
breast lobule. They have both epithelial require adjuvant therapy.
and connective tissue elements. Their
pathogenesis is unclear. They are not true Breast cysts
neoplasms being polyclonal rather than
monoclonal in nature. They should be Approximately 7% of women will develop a
considered as an ANDI. clinically palpable cyst at some stage in their
lives. They usually occur in peri-menopausal
Simple fibroadenoma women and the highest prevalence is
between 45 and 55 years. Cysts are often
Most simple fibroadenomas are smooth multiple, may appear suddenly and are
or slightly lobulated. They usually present frequently painful. Initial treatment is by
between 16 and 24 years of age. The incidence simple aspiration. Cytological assessment
decreases approaching the menopause. They of cysts fluid is unnecessary but cytology
may present as a hard calcified mass in the should be considered if there is a blood-
elderly. Approximately 10% of fibroadenomas stained aspirate. Surgical excision should
are multiple. Recently there has been an be considered if a cyst recurs rapidly or
improvement in the understanding of natural

Breast disease 211

repeatedly or there is a residual lump after recurrent breast sepsis. Repeated aspiration
aspiration. is the treatment of choice. Formal incision
and drainage through small incision should
Breast infections be considered if an abscess does not resolve
with conservative management. Definitive
Lactational breast abscess treatment may be necessary when sepsis
is quiescent with appropriate antibiotic
Lactational breast sepsis is usually due prophylaxis. This usually involves a major
to Staphylococcus aureus infection. Any duct excision. Spontaneous discharge or
resulting abscess is usually peripherally surgical excision can result in a mammary
situated. Surgery may be pre-empted duct fistula.
by early diagnosis. If the diagnosis is
suspected then there should be an attempt Nipple discharge
at aspiration, ideally under ultrasound
guidance. Repeated aspiration may be A nipple discharge is the efflux of fluid from
required and formal incision and drainage the nipple and accounts for about 5% of
can often be avoided. Appropriate referrals to a breast clinic. A discharge can be
antibiotics should be given. Patients should elicited in approximately 20% of all women
be advised to express milk from the affected by squeezing the nipple and this can often be
side and to continue breast feeding from the regarded as ‘physiological’ especially during
opposite breast. There is no need to suppress the neonatal period, pregnancy, lactation and
lactation. following mechanical stimulation. It can also
represent duct pathology such as:
Non-lactational breast abscess
• Duct ectasia
Non-lactational breast sepsis often occurs in • Duct papilloma
the periareolar tissue (Figure 15.2). Bacterial • Breast cancer
culture often yields Bacteroides, anaerobic
streptococci or enterococci. It is usually a Description of nipple discharge
manifestation of duct ectasia or periductal A nipple discharge can be described as:
mastitis. It most commonly occurs in women
between 30 and 60 years. It is more common • Unilateral or bilateral
in smokers who often give a history of • Single or multiple ducts

A non-lactational breast abscess Figure 15.2  A non-lactational
breast abscess

212 Chapter 15  Breast disease

• Colour and nature consider microdochectomy in younger
• Blood-stained women or total duct excision in older
• Spontaneous or expressed women.

Coloured or opalescent discharge is usually Galactorrhoea
bilateral, multi-duct, creamy or green in
colour. It usually occurs in late reproductive Galactorrhoea is milk secretion unrelated to
life. Symptoms may be intermittent. The breast feeding. It is usually bilateral, multi-
commonest cause is duct ectasia. Blood- duct, milky discharge. Volumes are often
stained and serosanguinous discharge copious and can occur spontaneously. The
are more worrying. It is often due to a causes of galactorrhoea are shown in Table
hyperplastic epithelial lesions and the risk of 15.2.
malignancy increases with age. About 12% of
breast cancers present with nipple discharge Gynaecomastia
and 70% of cases of blood-stained discharge
have either a duct papilloma or breast cancer. Gynaecomastia is the commonest condition
affecting the male breast. It is due to
Investigation enlargement of both ductal and stromal
tissue (Figure 15.3). ‘True’ gynaecomastia is
A detailed history will often indicate the enlargement of the breast glandular tissue.
underlying cause. Haemostix can be used to ‘Pseudo’ gynaecomastia is due to excess
test for the presence of blood. Nipple smear adipose tissue. Gynaecomastia is benign and
cytology is rarely useful. Mammography often reversible. The causes of gynaecomastia
should be performed in all women over 35 are shown in Table 15.3. Most cases are
years. Ultrasound may identify a retroareolar idiopathic. Physiological causes are due
lesion. If a lump is present, investigation to relative oestrogen excess. Physiological
should be by triple assessment. If there is gynaecomastia is seen in the neonatal period,
a suggestion of galactorrhoea the serum at puberty and in old age.
prolactin should be measured.
Clinical features
Management
Gynaecomastia usually presents as unilateral
Most women with multi-duct, creamy or bilateral non-tender breast enlargement.
discharge can be reassured after appropriate The history or examination may give an
investigation. Surgery is only required if the indication of an underlying cause. A detailed
discharge is profuse and embarrassing or drug history should be taken and assessment
malignancy can not be excluded. In women should include an abdominal and testicular
with a single-duct blood-stained discharge examination. The diagnosis is essentially

Causes of galactorrhoea

Physiological Drugs Pathological Other

Mechanical Dopamine receptor-blocking Hypothalamic and pituitary Oestrogens
stimulation agents – phenothiazines, stalk lesion Opiates
haloperidol
Extremes of Pituitary tumours
reproductive life Dopamine-depleting agents –
methyldopa Ectopic prolactin secretion
Post lactation
Hypothyroidism
Stress
Chronic renal failure

Table 15.2  Causes of galactorrhoea

Gynaecomastia Breast disease 213

Figure 15.3  Gynaecomastia

Pathological causes of gynaecomastia

Causes Examples
Primary testicular failure
Anorchia
Acquired testicular failure Klinefelter’s syndrome
Secondary testicular failure Bilateral cryptorchidism
Endocrine tumours
Mumps
Non-endocrine tumour Irradiation

Hepatic disease Generalised hypopituitarism
Drugs Isolated gonadotrophin deficiency

Testicular
Adrenal
Pituitary

Bronchial carcinoma
Lymphoma
Hypernephroma

Cirrhosis
Haemochromatosis

Oestrogens and oestrogen agonists – digoxin, spironolactone
Hyperprolactinaemia - methyldopa, phenothiazines
Gonadotrophins
Testosterone target cell inhibitors – cimetidine, cyproterone acetate

Table 15.3  Pathological causes of gynaecomastia

clinical and often extensive investigation is • Grade 2a – Moderate breast enlargement
not required. Gynaecomastia can be classified without skin redundancy
according to the degree of breast enlargement
and the extent of redundant skin as follows: • Grade 2b – Moderate breast enlargement
with skin redundancy
• Grade 1 – Minor breast enlargement
without skin redundancy • Grade 3 – Gross breast enlargement with
breast ptosis

214 Chapter 15  Breast disease

Treatment mammography. It is often a multifocal
disease process. Management depends on
Most patients simply need reassurance that the extent of lesion and the nuclear grade.
gynaecomastia is a benign and self-limiting Surgery alone is often adequate. In those
condition without any underlying cause. undergoing breast conserving surgery for
There are a limited number of studies of high-grade DCIS, postoperative radiotherapy
the results of medical therapy. Danazol should considered. The role of tamoxifen in
may reduce breast size in 80% of patients. the management of DCIS is controversial.
Tamoxifen may reduce both breast size and
pain. However, tamoxifen is not licensed for Invasive breast cancer
the treatment of gynaecomastia in the UK.
Clinical features
The results of cosmetic surgery can be Symptomatic breast cancer usually presents
disappointing. Patients are often unhappy with a painless breast lump. This may be
with the cosmetic appearance both before associated with skin dimpling or nipple
and after surgery. An operation can be retraction. Clinical evaluation should assess
considered if gynaecomastia is painful or tethering or fixation to the skin or pectoral
cosmetically embarrassing. Small areas muscle. There should also be an examination of
of gynaecomastia can be excised through the axillary and supraclavicular lymph nodes.
periareolar incision. More extensive areas Uncommon clinical presentations of breast
require either liposuction or a breast cancer include inflammatory breast cancer
reduction via a circumareolar incision. and Paget’s disease of the nipple (Figure 15.4).
Asymptomatic breast cancers may be picked
Breast cancer up through the breast screening programme.

Breast cancer affects 1 in 9 women worldwide. Breast cancer surgery
In UK there are 48,000 new cases and 20,000
deaths each year. It is the commonest cause of The aims of breast cancer surgery are to
cancer death in women. It accounts for 6% of achieve cure if excised before metastatic
all female deaths. Britain has one of the highest spread has occurred and to prevent the
breast cancer mortalities in both Europe and unpleasant sequelae of local recurrence.
the rest of the world. The WHO classifies breast
cancer as either non-invasive or invasive. Non- Breast surgery
invasive disease is classified as: The surgical options for the treatment of
breast cancer are:
• Ductal carcinoma in situ (DCIS)
• Lobular carcinoma in situ (LCIS) • Breast conserving surgery
• Simple mastectomy
Invasive disease is classified as: • Mastectomy +/– breast reconstruction

• Ductal (85%) Tumours considered suitable for breast
• Lobular (10%) conservation are usually small single tumours
• Mucinous in a large breast, often in a peripheral location
• Papillary with no evidence of local advancement
• Medullary or extensive nodal involvement. Patients
undergoing breast conserving surgery should
Ductal carcinoma in situ also be considered for adjuvant radiotherapy.
There is no difference in survival when
Ductal carcinoma in situ (DCIS) is a pre- breast conserving surgery with radiotherapy
malignant condition. On histological is compared to mastectomy. Radical
assessment, malignant cells remain within mastectomy is now obsolete.
the basement membrane. Not all cases
progress to invasive cancer. True DCIS Axillary surgery
does not cause lymph node metastases. Overall, 30–40% of patients with early breast
It is usually asymptomatic and was rarely cancer have nodal involvement. The aims of
identified prior to the establishment of
breast screening. It usually presents as
malignant microcalcification on screening

Paget’s disease of the nipple Breast disease 215

Figure 15.4  Paget’s disease of the
nipple

axillary surgery in breast cancer is to eradicate • Axillary clearance possibly gains better
local disease and to determine prognosis to local control
guide adjuvant therapy. Clinical evaluation
of the axilla is unreliable. Axillary ultrasound • Avoids complications of axillary
and fine needle aspiration or core biopsy may radiotherapy
provide preoperative staging information and
may allow a tailored approach to the axilla. • Avoids morbidity of axillary recurrence
Surgical evaluation of the axilla is important
and should be considered for all patients with The arguments for axillary sampling include:
invasive cancer.
• Avoids morbidity of axillary node
The axilla can be staged by: clearance

• Axillary node clearance • Axillary sampling only stages the axilla
• Axillary four node sample • Must be followed by axillary in those with
• Sentinel lymph node biopsy
lymph node involvement
The levels of axillary clearance are assessed • Avoids unnecessary surgery in 60% of
in relation to the pectoralis minor muscle as
follows: patients with node negative disease
• The combination of axillary clearance and
• Level 1 – Below pectoralis minor
• Level 2 – Up to the upper border of radiotherapy is avoided
• Reduces the risk of lymphoedema
pectoralis minor
• Level 3 – To the outer border of the 1st rib Sentinel lymph node biopsy is now regarded
as the optimal method of staging in those
The arguments for axillary clearance include: with a clinically and radiologically negative
axilla. It aims to accurately stage the axilla
• Axillary clearance both stages and treats without the morbidity of axillary clearance.
the axilla The technique is used to identify the first
nodes that tumour drains to by mapping the
• Axillary sampling potentially misses nodes axilla following the injection of either:
and under stages the axilla
• Radioisotope
• Blue dye
• Combination of isotope and blue dye

216 Chapter 15  Breast disease

The technique allows more detailed examina- variables in the form of an index allows
tion of nodes removed. The significance of identification of patients with different
micrometastatic deposits identified in sentinel prognoses. The Nottingham Prognostic Index
nodes is unclear. Histological assessment of (NPI) incorporates the three factors of tumour
the nodes removed can now be performed size, nodal status and histological grade
intraoperatively, allowing those with nodal (Table 15.4). The Nottingham prognostic
disease to proceed on to an axillary clearance index (NPI) = 0.2 × size (cm) + Node
under the same anaesthetic. stage + Tumour grade.

Prognostic factors Chemotherapy

About 50% of women with operable breast Chemotherapy can be given as either primary
cancer who receive locoregional treatment systemic therapy prior to locoregional
alone will die from metastatic disease. treatment or as adjuvant therapy following
Prognostic factors have three main uses: locoregional treatment.

• To select appropriate adjuvant therapy Primary (neoadjuvant) chemotherapy
according to prognosis
Chemotherapy can be given prior to surgery
• To allow comparison of treatment for large or locally advanced tumours. It
between similar groups of patient at risk of may shrink the tumour often allowing breast
recurrence or death conserving surgery rather than mastectomy.
About 70% tumours show a clinical response.
• To improve the understanding of the disease In 30% of patients this response is complete.
Surgery should be considered even in those
Prognostic factors can be chronological, with complete clinical response as 80% of
giving an indication of how long the disease these patients still have histological evidence
has been present and the stage of disease of tumour. Primary systemic therapy has not
at presentation or biological, relating to to date been shown to improve survival.
the intrinsic behaviour of the tumour.
Chronological prognostic factors include: Adjuvant chemotherapy

• Age The use of adjuvant chemotherapy depends
• Tumour size primarily on risk of recurrence. Important
• Lymph node status factors to consider include age/menopausal
• Metastases status, nodal status, tumour grade and
receptor status. Combination chemotherapy
Biological prognostic factors include: is more effective than a single drug, and is
usually given as six or eight cycles at 3-weekly
• Histological type intervals. There is no evidence that more
• Histological grade than 6 months treatment is of benefit and the
• Lymphatic/vascular invasion greatest benefit is seen in premenopausal
• Hormone and growth factor receptors

Although individual prognostic factors are
useful, combining independent prognostic

The Nottingham Prognostic Index

Number of nodes involved NPI = L + G + (0.2 × size in cm) Tumour grade (G)
0 Lymph node score (L) 1
1–3 1 2
>3 2 3
3

Table 15.4  The Nottingham Prognostic Index

Breast disease 217

women. High-dose chemotherapy with stem migration. The HER2 gene is over amplified
cell rescue produces no overall survival in 20% of breast cancers. HER2 positivity
benefit. is an independent poor prognostic factor.
Trastuzumab (herceptin) is a monoclonal
Endocrine therapy antibody that binds selectively to the HER2
receptor. It has been shown to improve
Tamoxifen survival in both the adjuvant and metastatic
Tamoxifen is an oral anti-oestrogen. It is an setting. It only works in patients with HER2
oestrogen receptor antagonist. It is effective positive cancers. Response to therapy can
in both the adjuvant setting and in advanced be predicted by immunocytochemistry and
disease. It is only effective in those with fluorescent in situ hybridisation (FISH)
oestrogen receptor positive disease. Little testing. The major side effects are cardiac and
benefit is seen in oestrogen receptor negative its use is associated with cardiac dysfunction
tumours. In the adjuvant setting, it has been in 5% cases.
shown that 5 years of treatment is better than
2 years. The value of treatment beyond 5 years Locally advanced breast cancer
is unknown. The risk of contralateral breast
cancer is reduced by 40%. Benefit is seen in Locally advanced breast cancers can be
both pre- and post-menopausal women. regarded as tumours that are not surgically
resectable (Figure 15.5). Clinical features of
Aromatase inhibitors locally advanced tumours include:
Several new endocrine therapies are
available. The aromatase inhibitors reduce • Skin ulceration
the peripheral conversion of androgens to • Dermal infiltration
oestrogens. They are only effective in post- • Erythema over the tumour
menopausal women and may be superior to • Satellite nodules
tamoxifen in high-risk women. To date, they • Peau d’orange
have not been shown to have survival benefit • Fixation to chest wall, serratus anterior or
compared with tamoxifen.
intercostal muscles
Biological therapy • Fixed axillary nodes

The human epidermal growth factor receptors If locally advanced tumours are oestrogen
are proteins embedded in the cell membrane. receptor-positive, they can usually treated
They regulate cell growth, adhesion and with primary hormonal therapy. If oestrogen
receptor-negative, chemotherapy may be
useful. Radiotherapy may be useful in the

Locally advanced breast cancer Figure 15.5  Locally advanced
breast cancer

218 Chapter 15  Breast disease

local control of disease. If an adequate Breast reconstruction
response to treatment is seen, then a salvage
mastectomy can be considered. Breast reconstruction is increasing in
popularity. It can be performed as immediate
Recurrent breast cancer or delayed procedure. Breast reconstruction
is oncologically safe. It does not delay
Most local recurrence of breast cancers adjuvant therapy or delay the detection of
are symptomatic (Figure 15.6) and are recurrent disease. There are no absolute
often associated with the development of contraindications. Relative contraindications
metastatic disease. Restaging is therefore include old age, diabetes, smoking and
essential. Local recurrence can be described collagen diseases. Preoperative counselling
as single spot, multiple spot of field change about the risks and potential benefits is
recurrence. The commonest sites for essential. There are three broad types of
metastases from a ductal carcinoma are the breast reconstruction:
liver, bone and lung. Lobular carcinoma
is less predictable often spreading to the • Tissue expanders or implant
bowel and retroperitoneum. Consideration • Pedicled myocutaneous flaps
should be given to further surgery for • Free tissue transfer
isolated ‘spot’ recurrence after mastectomy
or local recurrence in the conserved breast. Each has specific uses and complications. A
Radiotherapy should also be considered if nipple reconstruction may be considered and
not previously given. A change of hormonal the contralateral breast may require surgery
agent to an aromatase inhibitor may be to produce symmetry.
appropriate if the tumour is oestrogen
receptor positive. Tissue expanders

Male breast cancer Tissue expander or an implant-based
reconstruction is a simple and reliable
About 1% of all breast cancers occur in men. technique. However, when used alone it often
Pathologically, the disease is similar to that produces a poor cosmetic result. Capsular
which occurs in women. The principles of contracture can result in firmness and
treatment are the same though obviously the discomfort. Capsulectomy and replacement
proportion of men undergoing mastectomy of the implant may be required. Radiotherapy
is higher. Adjuvant therapy is the same as for may increase the risk of capsular contracture.
women. Textured implants reduce the risk of capsule
formation.

Local recurrence following mastectomy Figure 15.6  Local recurrence
following mastectomy

Breast disease 219

Pedicled myocutaneous flaps Free flaps

The two commonest flaps are: Several flaps have been described based
on perforator vessels. The most commonly
• The latissimus dorsi (LD) flap based on the used is the deep inferior epigastric
thoracodorsal vessels perforator (DIEP) flap. Other flaps have
been described based on the superficial
• The pedicle transverse rectus abdominis inferior epigastric artery or gluteal
(TRAM) flap based on the superior artery. Free flaps allow tissue transfer
epigastric vessels with reduced risk of donor site morbidity.
The flap failure rates are higher than with
Either type of flap can be performed as an pedicled flaps.
immediate or delayed procedure. Pedicled
flaps produce a better cosmetic result than Nipple reconstruction
the use of an implant or tissue expander
alone. The use of an LD flap is often Nipples can be reconstructed using several
combined with tissue expander or prosthesis. techniques including:
TRAM flaps often provide enough autologous
tissue to avoid the need for a tissue expander. • Nipple sharing
General complications associated with flaps • Skate flaps
include necrosis and flap loss. The LD flap • Labial grafts
leaves a scar on the back and some shoulder • Nipple tattooing
weakness. A TRAM flap can result in • Prosthetic nipples
abdominal donor site hernia and weakness.



Chapter 16 Endocrine
surgery

Applied basic sciences growth include growth hormone and
Endocrine physiology thyroxine.

Hormones are blood-borne messengers. They Thyroid anatomy
are produced by one organ, secreted into the and physiology
blood and carried to other parts of the body.
Only those organs that have specific receptors Thyroid embryology
respond to the hormone. Hormones have a
short half-life and are rapidly destroyed. They The thyroid gland develops from the floor of
are involved in homeostasis and adaptation. embryological pharynx (Figure 16.1). This
Some hormones control the activity of other occurs at a point between the tuberculum
endocrine glands. impar and the copula linguae at the junction
of the anterior two-thirds and the posterior
Control of salt, water and one-third of the tongue. This is known as
osmotic pressure foramen caecum. A diverticulum known as
thyroglossal duct invaginates and descends
Homeostasis requires close regulation of in close relation to the hyoid bone. The gland
body salt and water. ADH (antidiuretic becomes bilobed to form the thyroid lobes.
hormone) causes water resorption in the
collecting ducts of the kidney. Aldosterone Thyroid anatomy
increases sodium reabsorption by the kidney.
If the blood osmotic pressure is increased The thyroid gland lies below the thyroid
ADH secretion is increased. If the blood cartilage. The carotid sheath is posterior and
volume falls aldosterone production in lateral. The parathyroids glands lie posterior.
the renal cortex will increase. A number of The recurrent laryngeal nerve and external
hormones are also involved in the control of laryngeal nerve lie medially. The recurrent
serum calcium. laryngeal nerve is closely related to the
inferior thyroid artery. The two lobes of the
Reproductive function thyroid gland are connected at an isthmus.

Growth of the ovaries and testes and secretion The blood supply is from the superior and
of sex hormones is controlled by follicle inferior thyroid arteries. The superior thyroid
stimulating hormone (FSH) and luteinising artery is a branch of the external carotid
hormone (LH). Oxytocin produced by the artery. The inferior thyroid artery is a branch
posterior pituitary causes contraction of of the thyrocervical trunk. The thyrocervical
uterine muscles. Milk production involves trunk is a branch the subclavian artery. The
many hormones, including prolactin. Milk venous drainage is into the superior, middle
ejection during lactation is controlled by and inferior thyroid veins. The superior
oxytocin. thyroid vein drains into the internal jugular
vein. The middle thyroid vein drains into the
Growth and metabolism internal jugular vein. The inferior thyroid
vein drains into the brachiocephalic vein. The
Thyroxine increases the metabolic rate lymphatic drainage is into the deep cervical
of many tissues. Several hormones aid nodes
metabolism by raising blood glucose
including glucagon, adrenaline, cortisol Thyroid histology
and growth hormone. Insulin lowers blood
glucose. Erythropoietin supports metabolism The thyroid gland is composed of follicles that
by regulating the number of red cells in selectively absorb iodine and concentrate it
the blood. Important hormones regulating to produce thyroid hormones. About 25% of
all the body iodine is in the thyroid gland. The

222 Chapter 16  Endocrine surgery

Embryology of the thyroid gland Figure 16.1  Embryology of the
thyroid gland.
Body of
tongue Foramen
caecum

Epiglottis

Position of Hyoid
thyroglossal bone

cysts Thyroid
cartilage
Cricoid
cartilage Thyroid
gland

follicles are made of a single layer of thyroid lower serum calcium. It acts on skeletal tissue
epithelial cells. These secrete thyroxin (both and bone. It inhibits osteoclast activity and
T3 and T4). Inside the follicles is a colloid bone resorption. It stimulates osteoblast
which is rich in a thyroglobulin. It serves as activity. It inhibits release of ionic calcium
a reservoir of materials for thyroid hormone from bone.
production. The spaces between the thyroid
follicles contain other type of thyroid cells Parathyroid anatomy
– parafollicular cells C cells. These secrete and physiology
calcitonin.
Parathyroid embryology
Thyroid physiology
The parathyroid glands are derived from the
The gland is composed of follicles lined by pharyngeal pouches (Figure 16.2). The 3rd
cuboidal epithelium, which produce T3 and pharyngeal pouch gives rise to the inferior
T4. Within the follicles T3 and T4 is stored parathyroid glands. The 4th pharyngeal pouch
bound to thyroglobulin. When and as needed, gives rise to the superior parathyroid glands.
they are secreted. In the circulation T3 and T4 Abnormalities of position and number of the
are bound to albumin, thyroxine binding pre- parathyroid glands are common. About 5%
albumin and thyroxine binding globulin. Only of the population have less than four glands
about 1% of the hormones remain unbound. and 25% have supernumerary glands often in
Unbound hormones are physiologically active. aberrant positions.
T3 is quick acting (hours) and T4 is slow acting
(days). rT3 (reverse T3) is T3 produced in the Parathyroid anatomy
peripheries from conversion of T4.
There are four small (20–40 mg) parathyroid
Thyroid hormones promote carbohydrate, glands found near the posterior aspect of
protein and lipid metabolism. They act on the thyroid gland. They have a distinct,
most cells of the body except the brain. They encapsulated, smooth surface that differs
increase basal metabolic rate and oxygen from the thyroid gland. They are typically
consumption. They regulate tissue growth light brown in colour, which relates to their fat
and development. content and vascularity.

Calcitonin is produced by the The superior parathyroid glands are
parafollicular C cells. Its main action is to located close to the superior pole of the
thyroid gland near the cricothyroid cartilage.

Applied basic sciences 223

Embryology of the parathyroid glands

Maxillary process 1 Primary tympanic cavity
2 Pharyngotympanic tube
Mandibular process Palatine tonsil
1 3 Inferior parathyroid gland
4 Thymus
2 5 Superior parathyroid gland
3
4
Epicardial ridge

Ultimobranchial body

Figure 16.2  Embryology of the parathyroid glands. Numbered structures are the pharyngeal pouches and
sinuses.

They are most commonly found 1 cm above The anterior lobe of the pituitary is
the intersection of the inferior thyroid artery formed in the embryo from Rathke’s pouch
and the recurrent laryngeal nerve. The and consists of the pars anterior and pars
inferior parathyroid glands are more variable intermedia. Its blood supply reaches the lobe
in location and are most commonly found via the infundibulum and transports hormones
near the lower pole of the thyroid. from the hypothalamus. Cells are classified as
chromophils or chromophobes. Chromophils
Parathyroid physiology are either basophilic or eosinophilic. The
posterior lobe is a downgrowth of the floor
Parathyroid hormone is an 84 amino acid of the 3rd ventricle. Nerve fibres extend from
protein. It has half life measured in minutes. hypothalamus to the posterior pituitary.
It acts on cell membrane receptors to increase
intracellular cAMP. In bone, it increases The gland is overhung by the anterior and
turnover and calcium release. In the kidney posterior clinoid processes, dorsum sellae
it increases the production of 1,25 dihydroxy- and diaphragma sellae. The infundibulum
vitamin D3. In the gut it increases calcium passes posterior to optic chiasma. Superior to
absorption. optic chiasma is the anterior communicating
artery. A cavernous sinus lies on each side of
Pituitary anatomy the gland. In the lateral wall of each cavernous
and physiology sinus lies the III, IV, ophthalmic branch of V, VI
cranial nerves and the internal carotid arteries.
Anatomy of the pituitary gland
Symptoms of pituitary tumours occur due
The pituitary gland is situated below the to endocrine effects and pressure on adjacent
3rd ventricle. It lies in the pituitary fossa of structures. Visual changes include:
the sella turcica of the sphenoid bone. It is
covered by a fold of dura mater known as • Bitemporal hemianopia
the diaphragma sellae. It is connected to the • III nerve palsy
brain by the infundibulum and is divided into • Palsies of IV and VI nerves are rare
anterior and posterior lobes. • Proptosis

224 Chapter 16  Endocrine surgery

The hypothalamus stimulates the release of LH and FSH from
anterior pituitary. FSH stimulates sperm
The hypothalamus is a major control centre and egg production. LH causes ovarian
for homeostasis. It constantly measures the follicle maturation and ovulation. LH also
condition of the body and regulates functions causes release of the gonadal hormones –
using both nerves and hormones. It is testosterone and oestrogen. Rising levels of
responsible for control of emotional response, gonadal hormones inhibits GnRH, LH and
temperature regulation, appetite and water FSH.
balance. Hormonal control is exerted through
the anterior and posterior pituitary. It Growth hormone
controls both lobes of the pituitary gland.
Growth hormone-releasing hormone
Anterior pituitary physiology (GHRH) is produced by the hypothalamus. It
stimulates release of growth hormone (GH)
The hypothalamus controls the anterior by the anterior pituitary. Growth hormone
pituitary through a series of releasing is non-trophic and has direct action on
hormones. Releasing hormones travel in a non-endocrine cells. It is an important
portal system to the pituitary gland. They anabolic hormone. It stimulates many cells
either stimulate or inhibit the release of to grow and divide. It also promotes bone
anterior pituitary hormones. The anterior and skeletal muscle growth. It increases
pituitary is in turn controlled by negative protein production by liver and muscle and
feedback loops. The anterior pituitary stimulates gluconeogenesis. It converts
produces six major hormones. glucose to glycogen stores.

• ACTH – acts on the adrenal cortex Posterior pituitary physiology
• TSH – acts on the thyroid
• LH/FSH act on the ovaries and testes Nerves pass directly from two nuclei
• Prolactin – acts on the breast in the hypothalamus (supraoptic and
• Growth hormones – has diverse actions paraventricular) to the posterior pituitary.
Posterior pituitary hormones are made in
Adrenocorticotrophic hormones the cell bodies of the nerves. Hormones
Corticotrophin-releasing hormone (CRH) is travel down the nerve axons by axoplasmic
produced in hypothalamus. It stimulates the transport to the posterior pituitary.
release of adrenocorticotrophic hormone Hormones are released from the pituitary
(ACTH) from the anterior pituitary. ACTH as needed by neurosecretion. The posterior
stimulates the adrenal cortex to release pituitary releases two hormones. Antidiuretic
several hormones including glucocorticoids, hormone (ADH) acts on collecting duct of the
androgens and mineralocorticoids. Increased kidney to increase water retention. Oxytocin
levels of glucocorticoids reduce ACTH stimulates the uterus to contract during
release. ACTH levels are increased in fever, childbirth. It also causes vasoconstriction and
stress and hypoglycaemia. raises blood pressure.

Thyroid stimulating hormone Thyroid and
Thyrotropin-releasing hormone (TRH) is parathyroid disease
produced in the hypothalamus. It stimulates Thyroglossal cysts
the release of thyroid-stimulating hormone
(TSH) from the anterior pituitary. TSH Thyroglossal cysts arise from the thyroglossal
stimulates thyroid hormone production. Raised duct. They are present in about 7% of the
levels of thyroid hormones inhibit release of population. The male to female ratio is
TRH and TSH. TRH levels are increased during approximately equal. About 40% of cases
exercise and as part of the stress response. present less than 10 years of age. Thyroglossal
cysts are usually found in the subhyoid
Gonadotrophins portion of the tract and 75% present as a
Gonadotrophin-releasing hormone (GnRH) midline swelling (Figure 16.3). The remainder
is produced by the hypothalamus. It

Thyroid and parathyroid disease 225

A thyroglossal cyst • Grave’s disease
• Toxic nodular goitre
Figure 16.3  A thyroglossal cyst • Toxic solitary nodule
• Thyroiditis
can be found as far lateral as the lateral tip
of hyoid bone. As they are attached to the Clinical features
foramen caecum, they move up on protruding
the tongue. They often present as an infected The clinical features of thyrotoxicosis are
cyst due lymphoid tissue in the cyst wall. numerous and include:
A fistula may occur following rupture or
drainage of an infected thyroglossal cyst. • Palpitations, tachycardia, cardiac
Treatment arrhythmias, cardiac failure
A Sistrunk operation is the surgery of choice.
A transverse skin crease incision is made. • Sweating and tremor
Platysma flaps are raised and the cyst • Hyperkinetic movements
dissected. The middle third of the hyoid bone • Nervousness
and any suprahyoid tract extending into the • Myopathy
tongue is dissected and excised. • Tiredness and lethargy
• Weight loss
Thyrotoxicosis • Heat intolerance
• Diarrhoea and vomiting
Thyrotoxicosis is due to over production of • Irritability
thyroxine. It affects 2% women and 0.2% of • Emotional disturbance
men. The commonest causes of thyrotoxicosis • Behavioural abnormalities
are: • Ophthalmic signs
• Irregular menstruation and amenorrhoea
• Pretibial myxoedema
• Thyroid acropachy
• Vitiligo
• Alopecia

Pretibial myxoedema occurs in 1–2% of
patients with Grave’s disease. It presents with
painless thickening of the skin in nodules
or plaques. They usually occurs on the shins
or dorsum of foot. The presence of pretibial
myxoedema is strongly associated with
ophthalmopathy. Thyroid acropachy occurs
in less than 1% of patients with thyrotoxicosis.
It closely resembles finger clubbing. Almost
all patients also have ophthalmopathy or
pretibial myxoedema.

Grave’s disease

Grave’s disease usually occurs in
women between 20 and 40 years. It is an
immunological disorder due to production
of thyroid stimulating IgG antibodies. These
bind to TSH receptors stimulating thyroid
hormone production. It produces a diffuse
goitre. Clinically, patients have features of
thyrotoxicosis often with eye signs including:

• Exophthalmos and proptosis – usually
bilateral

226 Chapter 16  Endocrine surgery

• Diplopia due to weakness of the external for 4 months after treatment. The advantage
ocular muscles of radio-iodine treatment is that surgery or
prolonged drug therapy are avoided. The
• Chemosis and corneal ulceration disadvantages are that 80% of patients will be
hypothyroid at 10 years and long-term follow-
Investigation up is required.

The diagnosis of thyrotoxicosis can be Surgery
confirmed by measurement of TSH level.
A normal TSH excludes the diagnosis of Surgery is indicated in patients with Grave’s
thyrotoxicosis (except in rare case of TSH disease if there is relapse after an adequate
secreting pituitary tumours). The serum free course of anti-thyroid drugs, a large goitre
T4 is normally increased. The serum total T4 or high T4 levels at diagnosis. Subtotal
can be variable due to changes in thyroid thyroidectomy is the treatment of choice. It
binding globulin. Occasionally free T3 is preserves about 4 g (10%) of thyroid tissue.
increased in isolation in T3-toxicosis. Patients must be euthyroid prior to operation.
The advantages of surgery are that the goitre
Management is removed and the cure rate is high. The
disadvantages are that 5% develop recurrent
In patients with severe thyrotoxicosis, rapid thyrotoxicosis, 20% develop postoperative
symptomatic relief can be achieved with hypothyroidism and 0.5% develop
b-blockers. Thyroid function can be reduced parathyroid insufficiency.
by anti-thyroid drugs, radioactive iodine or
surgery. Thyroid storm

Anti-thyroid drugs A thyroid storm is an uncommon life-
threatening exacerbation of thyrotoxicosis.
Anti-thyroid drugs inhibit the synthesis of It has a mortality of up to 50%. Precipitating
thyroxine by reducing the incorporation factors include thyroid surgery, radioiodine
of iodine into tyrosine residues. The most and withdrawal of antithyroid drugs. Clinical
commonly used drug is carbimazole. It features include severe thyrotoxicosis, fever,
can be used short-term (3–4 months) delirium, seizures and jaundice. Treatment
prior to definitive treatment (radioiodine is with propylthiouracil, Lugol’s iodine, a
or surgery) or long-term (12–24 months) β-blocker and supportive measures.
to induce remission in Grave’s disease.
Overall, 40% of patients with Grave’s disease Goitre
respond to carbimazole. The side effects
include agranulocytosis, aplastic anaemia Goitre is a non-specific term describing
and hepatitis. Patients need to be warned enlargement of the thyroid gland. It does not
to seek medical attention if they develop imply the presence of any specific pathology.
a sore throat or other signs of infection. Goitres can be either diffuse or multi-nodular
The advantage of anti-thyroid drugs is that (Table 16.1). Causes of diffuse goitres include
surgery or the use of radioactive materials a simple goitre, Grave’s disease, thyroiditis,
may be avoided. The disadvantages are that lymphoma and amyloidosis.
treatment is prolonged; the failure rate after
2 years’ treatment is approximately 50%. It Solitary thyroid nodules
is impossible to predict which patients will
remain in remission. About 5% of the population have a clinically
palpable solitary thyroid nodule and 50%
Radioactive iodine of the population have a solitary nodule
131I is the commonest isotope used for identifiable at autopsy. Over 80% of solitary
the treatment of thyrotoxicosis. A dose of thyroid nodules occur in women. The
400 MBq renders 50% patients hypothyroid, risk of malignancy is increased three-fold
but about 20% remain hyperthyroid. Its use is in men. Malignancy is more common in
contraindicated in children, pregnancy and children and those more than 60 years of age.
breast feeding. Pregnancy should be avoided Approximately 50% solitary thyroid nodules

Thyroid and parathyroid disease 227

in children are cancers and 70% will have risk of malignancy. Evidence of fixation or
cervical and 15% pulmonary metastases on nodal involvement suggests malignancy. Most
presentation. However, childhood tumours patients will be clinically and biochemically
have good prognosis with greater than 80% euthyroid. Obstructive signs include stridor,
10-year survival. tracheal deviation, neck vein engorgement.
Hoarseness and vocal cord paralysis suggests
Overall, If all nodules were removed a recurrent laryngeal nerve palsy.
less than 10% would prove to be malignant.
Thyroid surgery is not without complications. Investigation
There is a need for a selective surgical Investigation of a solitary thyroid nodule
excision policy for thyroid nodules. should include:
Conservative management is appropriate if
malignancy can be reasonably excluded. • Biochemical assessment of thyroid
functional status
Clinical features
• Ultrasound
Rapid painless growth suggests malignancy. • Isotope scanning
Sudden painful growth suggests haemorrhage • Fine needle aspiration cytology
into a degenerating colloid nodule. Family
history is important. About 20% medullary Biochemical assessment
carcinomas are familial and associated
with multiple endocrine neoplasia (MEN) The thyroid functional status should be
2 syndrome. A history of radiation exposure assessed by measurement of free T4 and TSH.
should also be sought. In 1940s to 1960s Anti-thyroglobulin and anti-microsomal
large numbers of children were exposed in antibodies should also be measured. If there
the USA to low dose irradiation. It was used is a family history suggestive of medullary
in the treatment of many benign conditions carcinoma then serum calcitonin should also
including tonsillar hypertrophy, acne, thymic be measured. If there is suspicion of MEN2
enlargement. Radiation exposure increases syndrome, the patient will need 24-hour
the incidence of thyroid malignancy – usually urinary catecholamine estimation to exclude
papillary tumours. a phaeochromocytoma prior to surgery.

Examination needs to assess whether the Ultrasound
lesion is a true solitary nodule or a dominant
nodule within goitre. True solitary nodules An ultrasound scan will define whether a
have 10% risk of malignancy. Dominant lesion is a solitary or dominant nodule. It
nodules in a multinodular goitre have a 2–5% will also distinguish between solid and cystic
lesions. Most sonographically solid lesions
are benign and cancers can occur in the

Thyroid examination and functional assessment

Thyroid examination Thyroid function Causes
Diffuse goitre Euthyroid
Physiological goitre
Diffuse goitre Hyperthyroid Autoimmune thyroiditis
Multinodular goitre Euthyroid
Multinodular goitre Hyperthyroid Primary hyperthyroidism
Solitary nodule Euthyroid
Multinodular goitre
Solitary nodule Hyperthyroid
Toxic nodular goitre

Thyroid cyst
Thyroid adenoma
Thyroid carcinoma

Functioning adenoma

Table 16.1  Thyroid examination and functional assessment

228 Chapter 16  Endocrine surgery

wall of a cystic lesion. There are no reliable • When on clinical grounds the index of
sonographic criteria to distinguish benign suspicion of malignancy is high even if the
and malignant lesions. Features that might cytology report suggests it is benign
suggest malignancy include:
A definitive FNAC allows:
• Hypoechogenicity
• Microcalcification • Non-operative treatment of benign disease
• Irregular margins • Appropriate surgical treatment of thyroid
• Increased blood flow on Doppler
• Regional lymphadenopathy cancers at the initial operation
• Surgery to be avoided in anaplastic
Isotope scanning
tumours and lymphomas
131I , 123I or 99Tch scanning provides a • A reduction in the total number of thyroid
functional assessment of the thyroid. Nodules
can be classified as cold, warm or hot. Isotope lobectomies
scanning is unable to differentiate benign • Increased yield of thyroid cancers
and malignant nodules. Most solitary thyroid
nodules are cold. Most cancers arise in cold Thyroid neoplasms
nodules. The risk of cancer in a cold nodule
is about 10%. The risk of tumour in a hot Thyroid tumours can be classified as either
nodule is negligible. As a result, scintigraphy benign of malignant (Table 16.2). The
is of minimal use in the evaluation of solitary commonest malignant tumours are papillary
thyroid nodules. It is of increased use in the and follicular carcinomas.
assessment of recurrent thyroid swellings and
retrosternal goitres. Benign thyroid tumours

Fine needle aspiration cytology Most benign thyroid tumours are follicular
adenomas. Papillary adenomas are rare.
Fine needle aspiration cytology (FNAC) All papillary tumours should be considered
should be one of the first-line investigations malignant.
of a solitary thyroid nodule. With an
experienced cytologist, the diagnostic Follicular adenoma
accuracy can be more than 95%. The accuracy Of all follicular lesions, 80% are benign and
is improved if the sample is performed 20% are malignant. They are encapsulated,
under ultrasound guidance. Possible smooth and discrete lesions with a glandular
cytopathological diagnoses are: or acinar pattern. Follicular adenomas
can not be differentiated from carcinoma
• Benign on FNAC alone. The diagnosis requires
• Malignant histological assessment to exclude capsular
• Indeterminate invasion.
• Inadequate
Toxic adenoma
FNAC can distinguish benign and malignant Toxic adenomas account for 5% of all
tumours, except for follicular neoplasms. The cases of thyrotoxicosis. The female to
diagnosis of follicular carcinoma depends male ratio is approximately 9:1. Clinical
on visualisation of capsular involvement. presentation is with a thyroid nodule (50%)
If a follicular neoplasm is found on FNAC, or thyrotoxicosis (40%). Thyrotoxicosis is not
the lesion will require surgical excision. usually associated with the eye signs seen
Indications for surgery after FNA cytology are: in Grave’s disease. Scintigraphy shows a hot
nodule with suppression of normal thyroid
• All proven malignant nodules uptake. Treatment is by thyroid lobectomy.
• All cytologically diagnosed follicular Postoperative management requires thyroxine
until the suppressed gland returns to normal.
neoplasms
• All lesions exhibiting an atypical but non- Malignant thyroid tumours

diagnostic cellular pattern Differentiated thyroid cancer accounts for
• Cystic nodules which recur after aspiration 80% of thyroid neoplasms. The female to

Thyroid and parathyroid disease 229

male ratio is approximately 4:1. Malignant lobectomy with frozen section. If the frozen
thyroid tumours usually present with a section confirms a carcinoma then total
solitary thyroid nodule in a young or middle thyroidectomy should be performed. If
age adult. Papillary and follicular tumours are frozen section confirms an adenoma, no
biologically very different (Table 16.3). further surgery is required. All patients
require suppressive thyroxine therapy. Total
Papillary tumours thyroidectomy allows detection of metastases
Most papillary tumours are less than 2 cm using 123I scanning during follow-up.
diameter at presentation. Tumours less than
1 cm diameter should regarded as minimal Anaplastic carcinoma
or micropapillary lesions. Approximately 50% Anaplastic carcinoma accounts for less than
of papillary tumours are multicentric with a 5% of all thyroid malignancies. They occur
simultaneous tumour in the contralateral lobe. in the elderly and are usually an aggressive
Psammoma bodies and ‘orphan Annie’ nuclei tumour. Local infiltration causes dyspnoea,
are characteristic histological features. Early hoarseness and dysphagia. Incision biopsy
spread occurs to the regional lymph nodes. should be avoided as it often causes
A ‘lateral aberrant thyroid’ almost always uncontrollable local spread. Thyroidectomy
represents metastatic papillary carcinoma. is seldom feasible. Radiotherapy and
Thyroid lobectomy is adequate for minimal chemotherapy are important modes of
lesions. Total thyroidectomy is otherwise treatment. Death often occurs within 6
the surgery of choice. Many tumours are months.
TSH dependent and TSH suppression with
postoperative thyroxine is appropriate. The Thyroid lymphoma
role of prophylactic lymph node dissection at Thyroid lymphoma accounts for 2% of all
time of initial surgery is unclear. Lymph node thyroid malignancies. It often arises in a
dissection does not improve survival. If nodal thyroid gland with Hashimoto’s thyroiditis.
metastases are present, then a modified neck It presents as a goitre in association with
dissection is required. generalised lymphoma. Diagnosis can often
be made by FNAC. Radiotherapy is the
Follicular tumours treatment of choice. Prognosis is good, often
Follicular adenoma and carcinoma can not with more than 85% 5-year survival.
be differentiated on FNAC alone. Treatment
of all follicular neoplasms is by thyroid Medullary carcinoma
Medullary carcinoma accounts for 8% of all
Classification of thyroid tumours thyroid malignancies. They arises from the

Benign Malignant Comparison of papillary and
follicular tumours
Follicular adenoma Papillary carcinoma
Teratoma Follicular carcinoma Papillary Follicular
Mixed papillary–
follicular carcinoma Multifocal Solitary
Medullary carcinoma Unencapsulated
Lymphoma Lymphatic spread Encapsulated
Miscellaneous – e.g.
squamous, sarcoma Metastasises to Haematogenous
Metastatic regional nodes spread

Metastasises to lung,
bone and brain

Table 16.2  Classification of thyroid tumours Table 16.3  Comparison of papillary and follicular
tumours

230 Chapter 16  Endocrine surgery

para-follicular C-cells. About 20% of cases are • Recurrent laryngeal nerve palsy
familial with autosomal dominant inheritance • Hypocalcaemia
with almost complete penetrance. It can also • Pneumothorax
occur as part of the MEN IIa and MEN IIb • Air embolism
syndromes. Genetically determined cases are • Recurrent hyperthyroidism
often bilateral and multifocal. At risk patients • Hypothyroidism
can be identified by looking for a missense
mutation in the RET proto-oncogene and can Recurrent laryngeal nerve palsy
be offered prophylactic thyroidectomy. About
80% of cases are sporadic. Sporadic cases The recurrent laryngeal nerve is a branch
are usually unilateral. Tumours metastasise of the vagus nerve that supplies motor
to the regional nodes and also via blood to function and sensation to the larynx. The left
bone, liver and lung. About 50% of cases recurrent laryngeal nerve loops under the
have lymph node metastases at presentation. arch of the aorta, posterior to the ligamentum
Tumours produce calcitonin, calcitonin arteriosum before ascending. The right
gene-related peptide and carcinoembryonic recurrent laryngeal loops around the right
antigen. Serum calcitonin estimation can be subclavian artery. The nerves supply all the
used in follow-up to look for the presence of laryngeal muscles except for the cricothyroid,
metastatic disease. Total thyroidectomy is the which is innervated by the external branch of
treatment of choice. the superior laryngeal nerve. The recurrent
laryngeal nerve can easily be damaged during
Management thyroid surgery. If the damage is unilateral,
the patient may present with voice changes
The role of either total thyroidectomy including hoarseness. Bilateral nerve
or lobectomy in the management of damage can result in stridor and aphonia.
differentiated thyroid is controversial. It is essential to document the movement
of the vocal cords by indirect or fibreoptic
Arguments for total thyroidectomy include: laryngoscopy prior to thyroid surgery as
some patients have asymptomatic recurrent
• Multifocal disease occurs in the opposite laryngeal nerve palsies.
lobe in 50% cases
Follow-up of thyroid carcinoma
• Total thyroidectomy reduces the risk of Annual 123I scanning should be considered
local recurrence in order to detect asymptomatic recurrence.
Treatment of such recurrence can still be
• Ablation with radioiodine is facilitated curative. The patient needs to be off T4 for at
• Serum thyroglobulin can be used as least 1 month with conversion to T3. Serum
thyroglobulin is also important in follow-
a tumour marker for progression or up. Increasing levels are often the first sign
recurrence of recurrence and may allow detection of
• In experienced hands, the morbidity of recurrence without the inconvenience of
total thyroidectomy is low scintigraphy.

Arguments for thyroid lobectomy alone Thyroiditis
include:
de Quervain’s thyroiditis
• Many patients do not require radioiodine
• Progression to undifferentiated carcinoma de Quervain’s thyroiditis is also known as
granulomatous or subacute thyroiditis. It is
is rare believed to be due to a viral infection. It often
• The significance of micro-foci in the follows an upper respiratory tract infection. It
presents with a painful swelling of one or both
contralateral lobe is uncertain thyroid lobes, usually associated with malaise
• No evidence that more extensive surgery is and fever. Patients often have clinical features
of mild hyperthyroidism and the free T4 and
associated with a better prognosis
• The higher incidence of

hypoparathyroidism after total
thyroidectomy

Complications of thyroidectomy include:

• Haemorrhage
• Respiratory obstruction

Thyroid and parathyroid disease 231

ESR is usually raised. It is usually a self- years of age. Most patients are asymptomatic
limiting illness with spontaneous recovery. and most cases are identified when
Long-term, a few patients develop mild hypercalcaemia is detected on testing for
hypothyroidism. Symptomatic improvement other conditions. Causes of hypercalcaemia
can occur with the use of anti-inflammatory include:
drugs. Steroids may speed resolution in those
with severe symptoms. • Primary hyperparathyroidism
• Malignancy
Hashimoto’s thyroiditis • Granulomatous disease – sarcoidosis,

Hashimoto’s thyroiditis is also known as tuberculosis
lymphomatous thyroiditis and is due to an • Drugs – thiazide diuretics, vitamin D
autoimmune disease. It produces diffuse
swelling of the thyroid gland. Histologically, toxicity, lithium, milk alkali syndrome
the thyroid is infiltrated with lymphocytes • Familial hypercalciuric hypercalcaemia
and plasma cells. It may progress to • Endocrine – thyrotoxicosis, adrenal crisis
secondary lymphoid nodule formation and • Immobilisation
stromal fibrosis. Serum anti-thyroglobulin • Renal failure
and anti-microsomal antibodies are raised. • Aluminium intoxication
Patients eventually become hypothyroid.
Thyroxine replacement therapy suppresses Hyperparathyroidism can be
TSH and reduces the size of the gland. primary, secondary or tertiary. Primary
Surgery is rarely required. Long-term the risk hyperparathyroidism is due to overproduction
of thyroid lymphoma is increased. of parathyroid hormone by the parathyroid
glands. Primary hyperparathyroidism can be
Riedel’s thyroiditis due to:

Riedel’s thyroiditis is also known as acute • Parathyroid adenoma (85%)
fibrous thyroiditis. It is a rare but important • Parathyroid hyperplasia (15%)
disease as it often clinically mimics • Parathyroid carcinoma (<1%)
malignancy. Histologically there is a diffuse
inflammatory infiltrate throughout the Secondary hyperparathyroidism is a reactive
thyroid gland which may extend beyond the increase in parathyroid hormone production
capsule into adjacent structures. Clinically to compensate for a disturbance in calcium
it is associated with sclerosing cholangitis, homeostasis. Tertiary hyperparathyroidism
retroperitoneal and mediastinal fibrosis. is a condition in which reactive parathyroid
Surgery is rarely required but division of the hyperplasia results in parathyroid hormone
isthmus may be necessary to decompress the hypersecretion despite correction of
trachea. the underlying aberration of calcium
homeostasis.
Acute suppurative thyroiditis
Clinical features
Acute suppurative thyroiditis is due to a
bacterial or fungal infection. It produces an The clinical features of hyperparathyroidism
acutely inflamed thyroid gland. The diagnosis include:
is confirmed by fine-needle aspiration
cytology. Treatment is by parenteral • General – polydipsia, weight loss
antibiotics. • Renal – colic, haematuria, back pain,

Parathyroid disease polyuria
• Cardiovascular – hypertension, heart
Hyperparathyroidism
block
Hyperparathyroidism is a common disorder • Musculoskeletal – non-specific aches
affecting approximately 1 in 1000 of the
population. It affects 1 in 500 women over 45 and pains, bone pain, pathological
fractures
• Gastrointestinal – anorexia, nausea,
dyspepsia, constipation
• Neurological – depression, lethargy,
apathy, weakness, psychosis

232 Chapter 16  Endocrine surgery

Investigation are considered significant. It is a lateralising
rather than localising procedure. With a
In primary hyperparathyroidism, the parathyroid adenoma, there is unilateral
serum corrected calcium and PTH are elevation. In hyperplasia, there is bilateral
both increased. About 75% patients elevation. It is of greatest use prior to re-
have hypercalciuria and 50% have exploration of the neck for recurrent disease.
hypophosphataemia. There may also be a
mild hyperchloraemic acidosis. In secondary Management
hyperparathyroidism, the serum PTH is
increased but the calcium will be either The indications for surgery in
normal or low. hyperparathyroidism are:

Preoperative parathyroid localisation • Significant symptoms
• Corrected calcium more than 2.8 mmol/L
Opinion remains divided on the optimum • Complications of hypercalcaemia
method for the preoperative localisation for
primary parathyroid surgery. Some surgeons The management of mild hypercalcaemia
may consider primary surgery without or asymptomatic patients is controversial.
investigation. Preoperatively, methylene blue is infused
intravenously over about 1 hour. It selectively
Radiology stains the parathyroid glands. Normal glands
stain pale green. Pathological glands stain dark
Ultrasound is operator dependent with blue or black. An experienced parathyroid
variable accuracy. It may not detect a normal surgeon can recognise a normal gland,
parathyroid gland and the sensitivity for hyperplasia or adenoma. Frozen section may
the detection of abnormal glands is about be useful in differentiating an adenoma and
80%. It is able to identify intra-thyroid hyperplasia. If a parathyroid adenoma and one
parathyroid glands but may miss deep normal gland are identified then the adenoma
or intra-thoracic glands. CT is equally as can be removed and no further surgery is
accurate as ultrasound and may be more required. If hyperplasia is found then all four
useful for identifying ectopic glands. MRI is a glands should be removed and one gland
potentially useful investigation with improved transplanted into a marked forearm site.
resolution with the use of neck surface
coils. About 85% lesions less than 0.5 cm in Persistent or recurrent
diameter can be detected by MRI. hyperparathyroidism

Scintigraphy Persistent hyperparathyroidism

Scintigraphy utilises a combined 99Tch Persistent hyperparathyroidism is
(pertechnate) and 201Th (thallium chloride) hypercalcaemia identified within 6 months of
subtraction technique. The thyroid gland the initial surgery. It is usually due to a missed
takes up both 99Tch and 201Th. The parathyroid adenoma.
glands take up only 201Th. Image subtraction
leaves only the parathyroid image. It is the Recurrent hyperparathyroidism
best preoperative localisation technique able
to localises about 85% of abnormal glands. Recurrent hyperparathyroidism is
The specificity of the investigation is reduced hypercalcaemia more than 6 months after
by 201Th uptake in thyroid abnormalities (e.g. the initial surgery with an intervening
multinodular goitres, thyroid adenomas). period of normocalcaemia. It is usually due
to inadequate surgery for hyperplasia, but
Selective venous catheterisation there is a need to consider MEN syndromes.
Further surgery should be offered if the
Selective venous catheterisation is an invasive corrected serum calcium is more 3 mmol/L.
procedure during which multiple venous Preoperative localisation is essential as
blood samples are taken from the neck and recurrent parathyroid surgery has a higher
mediastinal sites. PTH levels double that morbidity and greater chance of failure.
measured in a peripheral venous sample

Pituitary and adrenal disease 233

Familial hypocalciuric T2 weighed images. CT guided cytology may
hypercalcaemia be useful but it is necessary to exclude a
phaeochromocytoma prior to this procedure.
Familial hypocalciuric hypercalcaemia is an
autosomal dominant condition with high Management
penetrance. It accounts for less than 1% cases If an adrenal incidentaloma is functioning,
of hypercalcaemia. It is due to increased then the patient should be considered for
renal tubule absorption of calcium. PTH an adrenalectomy. This can be performed as
levels are normal. It is a benign condition and either an open or laparoscopic procedure.
parathyroid surgery is not required. It should Malignant lesions are best managed by open
be suspected if hypercalcaemia has been seen surgery. If the lesion is non-functioning,
in several generations of a family, especially if treatment depends on the size of the lesion
members have had unsuccessful parathyroid and the risk of malignancy.
surgery.
Adrenal metastases
Normocalcaemic hypercalciuria The adrenal gland is a common site for
metastases. The most common primary
Normocalcaemic hypercalciuria is due to sites are breast, lung, renal, melanoma and
increased absorption of calcium from the gut lymphomas. Adrenal metastases are often
or a primary renal tubular leak. There is no bilateral. If the patient has a prior history of
benefit from parathyroid surgery. carcinoma, then 10–40% of adrenal masses will
be metastases. The risk of malignancy increases
Pituitary and adrenal with size of the lesion. Most malignant adrenal
disease lesions are greater than 5 cm in diameter.
Adrenal incidentalomas
Cushing’s syndrome
Adrenal incidentalomas are adrenal masses
discovered during imaging for non-adrenal Cushing’s syndrome results from cortisol
related causes. They are the commonest excess. The commonest cause is iatrogenic
adrenal ‘disorder’. They are found during 1–5% from the use of exogenous steroid medication.
of abdominal CT scans. About 5–10% patients Cushing’s disease, due to an ACTH-secreting
have non-functioning adrenal masses found pituitary microadenoma, has an incidence of
at postmortem examination. The male to 1 per 100,000 per year. The female : male ratio
female ratio is equal. Most incidentalomas are is 5:1 and the peak incidence 30 to 50 years.
benign and hormonally inactive (Table 16.4).
Very few patients require adrenalectomy. Aetiology
Diagnostic assessment needs to evaluate Cushing’s syndrome can result from primary
whether the lesion is hormonally active or (20%) or secondary (80%) adrenal disease.
malignant.
Primary adrenal causes include:
Assessment
Assessment of function requires: • Adrenal adenoma
• Adrenal carcinoma
• Plasma dihydroepiandosterone • Adrenal cortical hyperplasia
• 24-hour urinary catecholamines and
Secondary adrenal causes include:
metanephrines
• Low dose dexamethasone suppression test • Cushing’s disease
• Serum ACTH • Ectopic ACTH production from a

Assessment of the risk of malignancy requires malignancy
CT or MRI scanning. On CT scan, malignant
lesions are irregular non-homogeneous The commonest malignancies associated with
and have high attenuation. On MRI, ectopic ACTH production are:
malignant lesions have bright intensity on
• Small cell carcinoma of the lung
• Carcinoid tumours
• Medullary carcinoma of the thyroid

234 Chapter 16  Endocrine surgery

Differential diagnosis of adrenal The diagnosis can be confirmed by finding
incidentalomas in the absence of an increased 24-hour urinary free cortisol,
loss of diurnal rhythm of serum cortisol
prior malignancy and failure of suppression of serum cortisol
with low dose (0.5 mg) dexamethasone. The
Diagnosis Percentage anatomical site of lesion can be identified
by measuring serum ACTH. This will be low
Non-functioning cortical 55 in adrenal disease and high in pituitary and
adenoma ectopic production. A CRH test will show an
Cortisol producing adenoma 8 increased ACTH following the administration
Aldosteronoma 2 of CRH in pituitary disease. There will
Adrenal carcinoma 5 be no increase in ACTH following the
Phaeochromocytoma 5 administration of CRH in ectopic production.
Metastases 20 A high-dose dexamethasone suppression test
Other (e.g. cyst, myelolipoma) 5 will show reduced serum cortisol levels in
pituitary disease.
Table 16.4  Differential diagnosis of adrenal
incidentalomas in the absence of prior malignancy Imaging is vital in identifying that site
of the pathological lesion. A pituitary
Clinical features MRI has a high sensitivity for identifying
microadenomas but is not 100% predictive.
The clinical onset of Cushing’s syndrome is If diagnostic doubt exists, then bilateral
often insidious (Table 16.5). Patients often inferior petrosal sinus sampling for ACTH
notice weight gain, in the face, supraclavicular may prove diagnostic. Abdominal CT will
region and upper back. If not noticed by allow identification of adrenal pathology and
themselves, it may be highlighted by those somatostatin scintigraphy may identify sites
they live with. There may also be changes in of ectopic hormone production.
their skin, including purple stretch marks
and easy bruising. As a result of progressive Management
proximal muscle weakness, patients may
have difficulty climbing stairs, getting out of Cushing’s disease is best managed by
a low chair, and raising their arms. Menstrual transphenoidal microadenectomy. The
irregularities, amenorrhea, infertility, and success rate is approximately 90%. Large
decreased libido may occur in women. Men tumours occasional require open surgery
may develop decreased libido and impotence. via the anterior fossa. Postoperative
Psychological problems such as depression, radiotherapy may be required. If pituitary
cognitive dysfunction, and emotional lability surgery fails, consideration needs to
may occur. New-onset of hypertension and be given to bilateral adrenalectomy.
diabetes mellitus, difficulty with wound These patients will require postoperative
healing, increased infections, osteopenia and mineralocorticoid and glucocorticoid
osteoporotic fractures may occur. replacement. Approximately 25% patients
undergoing bilateral adrenalectomy
Investigation develop Nelson’s syndrome. Removal of
both adrenals eliminates the production of
The clinical presentation often does not cortisol and the lack of negative feedback
identify the cause of Cushing’s syndrome. allows any pre-existing pituitary adenoma
Investigations are aimed at: to grow unchecked. Continued growth
can cause mass effects due to physical
• Providing a biochemical confirmation of compression of brain tissue, along with
the diagnosis increased production of ACTH and
melanocyte stimulating hormone (MSH).
• Identifying the site of the pathological The signs and symptoms of Nelson’s
lesion syndrome include muscle weakness and skin
hyperpigmentation due to MSH excess.
• Identifying the nature of the pathology

Pituitary and adrenal disease 235

Clinical features of Cushing’s syndrome of hypertension. The hypertension often
responds poorly to treatment. Biochemically
Symptoms Signs there is usually a hypokalaemic alkalosis. It
should be noted that serum potassium may
Weight gain Truncal obesity be normal.

Menstrual irregularity Plethora Investigation
Investigation is needed to confirm primary
Hirsutism in women ‘Moon’ face hyperaldosteronism and to localise the
pathology. The diagnosis depends on
Headache Hypertension demonstration of:

Thirst Bruising • Reduced serum potassium
• Increased urinary potassium excretion
Back pain Striae • Increased plasma aldosterone

Muscle weakness Buffalo hump An abdominal CT is able to demonstrate
80% of adrenal adenomas. MRI has a similar
Abdominal pain Acne sensitivity. Assessment of function may
require isotope (NP59) scanning or renal vein
Lethargy/depression Osteoporosis sampling for aldosterone.

Table 16.5  Clinical features of Cushing’s syndrome Management
If an adrenal adenoma is demonstrated,
Adrenal adenomas require adrenalectomy. then adrenalectomy is the treatment of
This can be performed either laparoscopically choice. Patients may require preoperative
or via open surgery. Open surgery can spironolactone to increase serum potassium.
be performed via a transabdominal or Following surgery, the blood pressure
retroperitoneal approach. returns to normal in 70% of patients.
Hypertension associated with bilateral
Conn’s syndrome idiopathic hyperplasia is difficult to control.
Spironolactone alone or with an ACE
Aldosteronism, excess secretion of inhibitor is often useful.
aldosterone, can be primary, due to
pathology of the adrenal gland or secondary, Phaeochromocytomas
due to reduced plasma volume and increased
angiotensin production. The commonest Phaeochromocytomas are neuroendocrine
causes of secondary hyperaldosteronism tumours usually of the adrenal medulla.
are cirrhosis, nephrotic syndrome and Overall, 10% are multiple, 10% are extra-
cardiac failure. Conn’s syndrome is primary adrenal and 10% are malignant. Extra-adrenal
hyperaldosteronism due to: tumours are called paraganglionomas.
Most secrete adrenaline and some secrete
• Aldosterone producing adenoma (50%) noradrenaline and dopamine. The clinical
• Bilateral idiopathic hyperplasia – features and effects are due catecholamine
excess.
idiopathic hyperaldosteronism (40%)
• Aldosterone secreting carcinoma Clinical features
Phaeochromocytomas account for 0.1% cases
Pathophysiology of hypertension. Symptoms are often sporadic
Aldosterone is produced by the zona and paroxysmal. Attacks may last minutes
glomerulosa of the adrenal cortex. It acts or hours and occur at variable intervals.
on the distal convoluted tubule to increase The clinical features include hypertension,
sodium reabsorption. Sodium reabsorption palpitations, tachycardia and sweating.
occurs at the expense of potassium and About 50% of patients develop chest pain.
hydrogen ion loss.

Clinical features
Conn’s syndrome usually occurs between
30 and 60 years and accounts for 1% of cases

236 Chapter 16  Endocrine surgery

Chronic effects include hypovolaemia and tumours are malignant, in others they are
cardiomyopathy. Phaeochromocytomas can benign. Benign or malignant tumours of non-
be associated with: endocrine tissues also occur as components
of some of these syndromes.
• Multiple endocrine neoplasia syndrome
(Type 2) MEN 1 syndrome
(Wermer’s syndrome)
• Neurofibromatosis
• Von Hippel Lindau syndrome • Hyperparathyroidism (90%)
• Pancreatic islet cell tumours (60%)
Investigation
–– Gastrinoma (60%)
To confirm the diagnosis of a –– Insulinoma(10%)
phaeochromocytoma, it is necessary to –– Vipoma
demonstrate catecholamine excess by: –– Glucagonoma
• Pituitary tumours (5%)
• 24-hour urinary vanniyl mandelic acid –– Prolactinoma
(VMA) –– GH, ACTH, TSH secreting tumours
• Thyroid adenoma
• 24-hour urinary total catecholamines • Adrenal adenoma
• Serum adrenaline or noradrenaline • Carcinoid tumours

Tumour can be localised with MEN 2a syndrome
either abdominal CT, MRI or meta- (Sipple’s syndrome)
iodobenzylguanidine (MIBG) scanning.
• Medullary thyroid carcinoma (100%)
Management • Phaeochromocytoma (50%)
• Hyperparathyroidism (10%)
Usually, the clinical features of a
phaeochromocytoma can not be controlled MEN 2b syndrome
pharmacologically. Adrenalectomy is
invariably necessary after appropriate • Medullary thyroid carcinoma (100%)
preoperative preparation. Surgery for • Phaeochromocytoma (50%)
a phaeochromocytoma requires close • Multiple mucosal neuromas (100%)
cooperation between the surgeon • Ganglioneuromatosis of the gut (100%)
and anaesthetist. Preoperative • Marfanoid appearance (100%)
preparation requires a-blockade with
phenoxybenzamine for at least 2 weeks. The MEN 1 gene
b-blockade after a-blockade may be
required. b-blockade without a-blockade MEN1 syndrome follows Knudson’s
can cause a hypertensive crisis. Preoperative ‘two-hit’ model for tumour suppressor
hypovolaemia should be corrected. gene carcinogenesis. The first hit is a
Potential intraoperative problems include heterozygous MEN1 germ line mutation,
hypertension associated with handling inherited from one parent. The second hit
of the tumour and hypotension following is a MEN1 somatic mutation that occurs in
devascularisation of the tumour. Tight predisposed endocrine cells. MEN1 gene
intraoperative blood pressure control is mutations can be identified in 70–95% of
necessary and can be achieved with fluids, MEN1 patients. The same mutations are
nitroprusside and dopamine infusions. also seen in about 20% of familial isolated
hyperparathyroidism cases. Almost all
Multiple endocrine patients are heterozygous for mutations.
neoplasia syndromes About 50% of patients develop signs and
symptoms by 20 years of age. More than
The term multiple endocrine neoplasia 95% or patients have symptoms by 40 years
(MEN) encompasses several distinct of age. About one-third of patients affected
syndromes. Each syndrome features tumours with MEN1 will die early from an MEN1-
of endocrine glands, each with its own
characteristic pattern. In some cases, the