National Clinical Audit of the Management of Familial ...

National Clinical Audit of the
Management of Familial

Hypercholesterolaemia 2010

Steve E Humphries, BHF Professor
Cardiovascular Genetics UCL

Kristina Pedersen, Joe Besford,
Michael Roughton RCP

Structure of talk

Introduction

Organisational Audit - Results and Key Recommendations

Clinical Audit of Adults - Results and Key Findings

Clinical Audit of Children - Results and Key Findings

Key Recommendations

Steering Group

Professor Steve Humphries, Kristina Pedersen , Dr Jonathan Potter,
Joseph Besford, Rhona Buckingham, Dr Chris Hendricks, Claire Neuwirth,
Dr Mary Seed, Michael Roughton, Katharine Young, Jane Ingham,
Professor Roger Boyle, Dr Cyril Chapman, Dr Philip Adams, Dawn Davies,
Professor Andrew Neil, Dr Ian McDowell, Judy O’Sullivan, Dr Tim Wang, Dr
Devaki Nair, Dr David Wald

Working Group

Background National audit based on agreed standards and
evidence-based guidelines is expected to
Issue date: August 2008 improve clinical practice, and thereby
significantly reduce the mortality and morbidity
Identification and associated with FH.
management of familial
hypercholesterolaemia Audit standards and indicators were developed
from the NICE Clinical Guideline for the
NICE clinical guideline 71 Identification and Management of FH (CG71,
2008).
Developed by the National Collaborating Centre for Primary Car e
A 14 Site pilot was run in 2009 to test the
methodology. This resulted in the notes of 226
adults and 22 children with FH being
examined.

On the basis of this experience the full national
audit was developed.122 sites participated in
the 2010 national audit. This resulted in the
notes of 2324 adults and 147 children with FH
being examined.

http://www.nice.org.uk/nicemedia/pdf/CG071

Sites Audit leads

Dr Adam Cookson, Ms Cathy Havard, Dr Charles van Heyningen, Sally Hanton, Dr Michael Penney, Dr Paul Cook, Dr David
Cartwright, Dr Tahseen Chowdhury, Naomi Cavanagh, Dr Sudha Iyer, Dr Michael Mulcahy, Linda Wright, Dr WS Wassif, Prof Paul
Nicholls, Dr Colin Graham, Prof Ian Young, Dr Yee Ping Teoh, Dr John Harvey, Ms Petula Whittle, Dr Chris Hendriksz, Dr Anupam
Chakrapani, Dr Saikat Santra, Kelly Burt, Dr A Ahmed, Dr Etumi, Ms Jayne Porter, Dr Donald Whitelaw, Dr Paul Sainsbury, Dr
Andrew Iversen, Prof Tim Reynolds, Mrs Alice Joy, Dr Huw Griffiths, Dr Paul Flynn, Dr Ian McDowell, Dr Alan Rees, Ms Kate
Haralambos, Dr Handrean Soran, Ruth Eatough, Dr Tara Clancy, Dr Paul Masters, Ms Sarah Wright, Dr Peter Carey, Mrs Sue
Russell, Dr KH Tang, Ms Katrina Estlea, Dr Shirley Bowles, Ms Mary Fisher-Morris, Dr David Cassidy, Kelly Parham, Aimee
Protheroe, Dr Garry Tan, Ms Margaret Bailey, Frank Geoghegan, Dr Katherine Sloper, Sadia Siddique, Dr Adie Viljoen, Dr Peter
Winocour, Ms Ann Ainsworth, Dr Manojchandra Mishra, Dr Jenny Prouten, Dr Sahnil Kadir, Mr Andrew Costello, Dr Nikhil Patel, Dr
Jonathan Morrell, Ms Gemma Baldock-Apps, Dr Hervey Wilcox, Dr Niki Meston, Dr M Lapsley, Dr Tim Wang, Dr Hayley Bentley, Mrs
Michelle Collins, Dr Vinod Patel, Mr David Watts, Mr Atul Kotecha, Dr Kok-Swee Gan, Dr Lara Abulhoul, Mel McSweeney, Dr
Anthony Wierzbicki, Ms Zofia McMahon, Dr Martin Crook, Dr Deepak Chandrajay, Dr Mike Toop, Christina Jewkes, Dr Alan Jones,
Dr Rachel Marrington, Dr Ian Walker, Razya Hussain, Dr Michelle Emery, Dr Nuha Haboubi, Ms Leah Williams, Victoria Edwards, Dr
Shahenaz Walji, Yvonne Tan, Dr Martin Grimmer, Dr Patrick Twomey, Dr Taruna Likhari, Ms Tracy Hitching, Dr Ali Al-Bahrani,
Charlise Cuthbert, Dr Rama Chandra, Dr Rosemary Clarke, Dr John Wong, Ms Anne Jones, Dr Martin Myers, Dr Simon Howell, Ms
Alison Leather, Dr Yvette Lolin, Dr Anne Tarn, Ms Gloria Rest, Ms Jennifer Hughes, Dr Vasantha de Silva, Karen Williams, Ms Celia
O'Connor, Dr Angela Gbegbaje, Dr David Oleesky, Dr Kevin Evans, Dr David Gwilt, Mrs Deborah Saberi, Dr Ceridwen Coulson, Ms
Christine Tinline-Purvis, Dr Chris Lord, Mrs Margaret Bowe, Dr John Frater, Mr Terry Holdcroft, Dr Fiona Gidden, Karen Tiwary, Dr
Alastair Watt, Dr Michael Ryan, Dr Elinor Hannah, Dr Paul McKenna, Deborah Stone, Dr Peter Prinsloo, Mr Gareth Tomlinson, Dr
Fredrik Karpe, Ms Katerina Vernicos, Dr Deepak Bhatnagar, Dr Steven Martin, Dr Hannah Delaney, Dr Aabha Sharma, Dr Jose
Cabrera-Abreu, Dr N Pritchard, Ms Vivienne McGlashan, Dr Andrew Hutchesson, Dr Suzanne Palin, Ms Angela Chicamisse, Dr
Mahmoud Barbir, Alison Pottle, Jane Breen, Dr Simon Fleming, Dr Maurice Salzman, Ms Jane Morgan, Ms Lesley Holman, Joanne
Lowe, Dr Devaki Nair, Mr Darren Harvey, Dr A Jain, Malin Zettergren, Dr Lakshminaraya Rao Ranganath, Ms Helen Brady, Dr Callum
Livingstone, Lesley Snell, Dr Andrew Taylor, Dr Felicity Stewart, Dr Aram Rudenski, Ms Helen Walsh, Dr Nuala O'Connell, Dr
Elizabeth Hughes, Dr Inessa Tracey, Ms Rose Bedward, Dr Mark Sharrard, Lesley Edgar, Dr Trevor Gray, Dr Catherine Bywaters,
Roger Marr, Dr Firial Al-Ubaidi, Ms Sonia Gill, Dr Nigel Capps, Mrs Sally Allen, Dr Ian Bailey, Dr Sath Nag, Ms Maria TaylorDr Atif
MunirDr Emmanuel AbuDr Peter SharpeDr Charles van HeyningenMeryl AndersenDr Mourad LabibDr Angela Haddon, Ms Liz
Higginson, Dr Michael Mansfield, Amalia Iliopoulou, Julian Barth, Dr Martin Crook, Sarah Goreham, Carol Houbert, Ms Clare Holtby,
Dr Paul Brooksby, Dr Ryan D'Costa, Ms Maxine Andrews, Fiona Dudley, Dr Dermot Neely, Lesley Srembridge, Dr Yetunde Baoku,
Dr Shanthi Thomas, Dr Adrian Jennings, Ms Paula Bennett, Dr Robert Lord, Dr Joe Begley, Prof Rousseau Gama, Dr Lance Sandle,
Stuart Logan, Dr Koshy Jacob, Dr Catherine Lunken, Mr Chris North, Prof Gordon Ferns, Dr Basil Issa, Dr Ahmed Elsadig, Dr
Robert Cramb, Dr Takek Hiwot, Dr Helen Ashby, Dr Graham Bayly, Ms Isabella To, Dr Mike Khan, Dr Sethsiri Wijeratne, Mrs Linda
Belgrove, Dr Hala Alsafadi, Dr Webster Madira, Dr Maciej Tomaszewski, Ms Julie Bennett, Dr Paul Giles, Susan Smith, Dr Alison
Davis, Mr R Cottier

Participation

137/145 sites signed up for the audit (94%)

118 sites completed the organisational survey (81%)
England (108), Wales (6), Scotland (4) and Northern
Ireland (4)

Data were supplied for 2471 patients (3rd Clinic visit)

Sites supplied data on one or both groups of patients
(adults and children).

2324 adults (94%)
147 children (6%)

Since ~15,000 FH patients currently identified in UK this is
~15% of adults and 30% of children so likely to be
good representation of current practice

Organisational Audit – Key Results - 1

Where are FH patients being seen in the 118 sites?

Specialist Other
Med 3%
2%
General Diab/Endoc
Med 24%
13%
Cardiology
Chem Path 11%
47%

As with 2008 Heart UK survey, FH patients are managed in many
directorates, mostly Chemical Pathology, Diabetes and Cardiology.

Organisational Audit – Key Results - 2

Majority have a lead clinician responsible for FH care, <50%
have someone with operational managerial responsibility for
FH service
Most sites do not run a dedicated FH clinic.
19% report not using the Simon Broome Diagnostic criteria
Only 26% of sites have a specialist service for young people
with FH.
Over 60% of sites have neither a paper or electronic database
for FH patients.

As expected – Room for improvement!

Organisational Audit – Key Results - 3

Only 12% of sites have a designated cascade testing clinic, with
another 14% in development of this service.

While 57% of sites have DNA testing available this is funded only
in 12% of sites

Country Comparisons

Percentage DNA Test CT Commis 75 DNA and CT
66 commissioning is
120
100 Scotland lagging behind
in England
100
83

80

60

40 31 25 North I
21 Wales

20
5

0

England

Organisational Audit – Key Results - 4

Formal shared care arrangements are important if FH patients are
discharged to GPs, develop CHD, or are women of child bearing age
that have been detected by cascade testing

Shared Care Arrangements

Formal Informal None

90 85
80 79

70

Percentage 60 52 52 Most sites do not
50 36 have adequate
50 44 43 shared care
arrangements
40

30

20 14 12 9 12
10 6
5 1

0

GPs Cardiology Obstetrics Pediatrics LDL-apher

Organisational Audit – Key Results - 5

On average sites reported 1 consultant PA/wk for lipid management, of
which 35% is spent on FH patients.

86% of sites had no lipid specialist Nurse

Number Consultant PAs Number Nurses

Many sites are a single Consultant and no Nurse

Organisational Audit – Key Results - 6

Median number of New FH patients seen last year was 20 (IQR 7-50)
Median number FH patients in follow up was 50 (IQR 20-140)

Number New Adult Patients Number Adult Patients in Follow-up

Total = 4276 Total = 11065

Many small and some large sites
Overall ~15,000 FH patients currently being seen

Organisational Audit - Key Findings

Organisational aspects of the care pathway for FH are still being
developed.

Current resources are inadequate to cope with the identification of the
predicted FH relatives of affected cases UK wide. This includes access
to trained staff (86% of sites had no lipid specialist nurses), IT provision
and pedigree drawing.

There is a major lack of family “cascade” testing, whether carried out
on the basis of lipid levels or, more effectively, by a DNA diagnosis.

While there is good access to DNA diagnosis and funding for DNA
testing in the Devolved Countries, access and funding in England is poor.

Organisational Audit Key Recommendations

Commissioning arrangements need urgently to be reviewed for key
elements of the services for FH patients, both at national and local levels.

Several aspects of the care pathways for FH patients need to be
implemented, including shared care arrangements between hospital and
primary care and better links between with several other specialties,
including paediatrics.

Additional resources will be needed to cope with the care of new FH
patients identified by cascade testing. Training to address the shortage of
staff with key skills will be required.

Systems need to be developed and implemented to carry out
comprehensive “cascade” testing. This will require trained health
professionals with the appropriate skills to follow up the families of index
patients, improved IT resources, including an FH patient database, and
pedigree drawing.

Clinical Audit – Key Results

Patient data – Characteristics

• 2324 adults mean age 52.3 (42-61) yrs, %age Male = 42%
• Ethnic mix W = 83%, IA = 5%, other = 3%
• DFH : PFH : HOZ, 36% vs 58% vs 2% ! ?
• History CHD 24%, ECG in 48% notes
• 15% current 23% ex smokers
• Pedigree in 91% notes, Age onset relatives CHD in 79%
• DNA testing in 27%, CT initiated in 72%
• Secondary Causes excluded, all >90%
• Annual Review performed in 82%

Characteristics as expected,
Room for improvement for DNA and Cascade Testing

Are SB diagnostic criteria being properly applied?

Pre Treatment Lipoprotein measurements (adults)

Median (IQR)mmol/l

LDL-C - 6.1 (5.1-7.2) HDL-C - 1.3 (1.1-1.6) TG - 1.6 (1.1-2.1)

9% have LDL-C below Some have TG
4.9mmol/l SB cut-off. above SB cut-off.
Already treated by GP?
May be FCH?
Not all sites use SB criteria

How Many HOZ FH patients audited?

Baseline T-Chol

49 HOZ??? 5 have LDL-C above SB cut-off.
Expect perhaps 4-6
All between 20-30years, only 1 had CHD.

Not all sites use SB criteria !!

On - Treatment LDL-C levels

35% Atorva, 35% Rosuva, 8% Simva, 3% Prava, 14% on None*
48% also on Ezetemibe, 6% also on fibrates

LDL-C - 3.5 (2.8-4.7) mmol/l Some patients have gone up!!

44% achieved 50% lowering
20% had LDL > 4mmol/l,
8% had LDL > 5mmol/l.

Mean reduction for individual patients = 39% (16%-56%) * Intolerant = 48%,
Declined = 13%,
LDL-C lowering not reaching NICE target Pregnant = 12%
Since only 3rd visit some further falls may occur

Is management similar in large and small sites?

Compared 62 sites with 1 or less consultant PA/wk and 60 sites with >1
Many elements not different but

* p < 0.05 Small Large

100 * 93 * 84

84 79

Percentage 80 * 75

64 62

60 * 44 44

40 33 *18
19 14
22

20

0

Genetic Dietician Pedigree CT started Annual No statin 50% Red'n

input review

On average, small sites currently lagging behind
large sites for some NICE recomendations

Audit data for Children (<16yrs)

Where were Children seen?
• 59% of sites see children

FH Clinic • 26% sites have a special service
3%

Other for young people with FH

22%

Pediatric Many seen in adult clinics
Clinic • 320 new child patients seen/yr
5%

Lipid Clinic
70%

• 772 child patients in follow-up

Over 1000 children being seen is encouraging
But number <16yrs with FH estimated to be >20,000

Audit data for Children (<16yrs)

Patient data – Characteristics
• 147 children, mean age 12.6 years, %age Male = 57%
• DFH : PFH : HOZ = 54% vs 46% vs 0.7%
• History CHD 4%
• Pedigree in 83% notes, 78% blood relatives with CHD

• DNA testing in 52% √

• Secondary Causes, excluded all >50%
• Height and Weight recorded in >90% cases
• Annual Review 96% (82%)

Children data collection good
Lipid levels?

Children Pre-Treatment Lipid levels

Median (IQR)mmol/l

LDL-C - 5.4 (4.5-6.1) HDL-C - 1.3 (1.1-1.6) TG - 0.9 (0.7-1.2)

13% have LDL-C Levels as expected.
below SB Treatment?

4.0mmol/l cut-off.

Post Treatment LDL-C No Statin (n = 64)

Treatments Intolerant
3%
Atorva
29% Low risk
16%

None
44%

Other Declined
64% 17%

Prava
12%

Simva
15%

Resin 5%, Ezetimibe 2%
Fibrate 0.5%, NA 0.5%

There are no NICE Guidelines for lipid lowering in children

Post Treatment LDL-C Median (IQR)mmol/l
Statin treated children only
LDL-C - 3.9 (3.4-4.8) mmol/l

Median (IQR) reduction for individual patients was 31% (16-46%)
Since only 3rd visit some further falls may occur

Key Findings

Adults

The clinical management in lipid clinics is of a good standard for
individual patients who have been diagnosed with FH.

Lipid lowering therapy is not yet optimal (8% still LDL-C > 5.0mmol/l)

While good management of FH patients is occurring in both small and
large sites, there is some evidence that small sites adhere less fully
to key aspects of the guideline. (annual review, pedigree data and
initiation of cascade testing).

Children

There is a shortfall in child-focused services throughout the country,
with only 26% of sites offering paediatric FH services.

Where such services were audited they are of a good standard.

Key Recommendations

The establishment of multidisciplinary teams should be encouraged since
they appear to achieve better implementation of the guidelines and
management of FH patients.

Resources are needed for DNA diagnosis and Clinical Genetics input.

Based on published data, cascade testing alone will find less than 50% of
the predicted 100,000 unidentified FH patients in the UK, and other
methods for finding FH probands will need to be explored.

National Organisations:

Given that FH families are geographically dispersed, cascade testing may
be facilitated by a specifically funded UK FH Register to which all FH
cases would be notified

It is recommended that a second UK wide audit of services should be
commissioned to start in 2012.