26 FH T - Genetic Alliance UK

Familial Hypercholesterolaemia

People with familial hypercholesterolaemia have higher than normal levels of cholesterol in
their blood from birth. They are at high risk of early heart disease. Familial
hypercholesterolaemia affects about one person in every 500. It is one of the most common
inherited conditions in Britain. It is caused by a change or mutation in a gene that results in
very high cholesterol levels.

Did you know?

 More than 100,000 people in Britain have familial hypercholesterolaemia.
 Many people have familial hypercholesterolaemia that is not detected.
 This may have serious results for their health and for their families.
 People with familial hypercholesterolaemia may become disabled or die from heart

disease, many of them in their 40s or 50s, some earlier in life.
 Early diagnosis allows people who have familial hypercholesterolaemia to start

effective treatment to lower their cholesterol.

Familial hypercholesterolaemia and your family

Each child of a parent with familial hypercholesterolaemia has a 50% chance of inheriting
familial hypercholesterolaemia. If familial hypercholesterolaemia is diagnosed in someone, it
is essential that all of that person’s close relatives have their cholesterol levels measured. If
they have high cholesterol, they can then start preventative treatment.

How does familial hypercholesterolaemia affect people?

Familial hypercholesterolaemia causes a very high cholesterol level and a strong family
medical history of early heart disease. Familial hypercholesterolaemia can also cause

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changes and lumps in the skin, in some affected people. These need to be diagnosed
accurately by a doctor. The lumps in the skin result from collections of cholesterol on the
knuckles and in the Achilles tendon. The resulting swellings are called tendon xanthomas or
xanthomata.

Cholesterol may also collect in the skin around the eye or eyelid and cause changes there.
These collections usually look yellow. They are called xanthelasmas.

Another change often seen in people with familial hypercholesterolaemia is a pale ring
around the iris (the coloured part of the eye). The ring is called corneal arcus. Xanthelasmas
and corneal arcus can occur for other reasons, as people get older. Everyone who has
xanthelasmas or corneal arcus does not have familial hypercholesterolaemia.

Familial hypercholesterolaemia in children

It is important to identify familial hypercholesterolaemia in children. This is even more
important if adults in the family have early heart disease. Children who have a parent with
familial hypercholesterolaemia should have their cholesterol tested before the age of ten
years, but generally not before they are two years old. Children with high cholesterol levels
may be advised to eat food low in total and saturated fat. Eating this type of food can be
healthy for children over two years of age, provided they eat enough of the right type of food
to give them energy and for normal growth. Parents should get advice from a dietician who
has experience in managing high cholesterol levels. Some children with familial
hypercholesterolaemia may need medicines to lower their cholesterol. If a child does need
cholesterol-lowering medication, this should only be prescribed by a specialist clinic.

Treatment of familial hypercholesterolaemia

Diet

Diet is an essential part of the treatment and management of familial hypercholesterolaemia.
The diet for familial hypercholesterolaemia involves eating foods that help to lower the
cholesterol. It is important for people with familial hypercholesterolaemia to keep to a healthy
diet, even if they are also taking drugs to control their cholesterol levels. Diet and drugs work
together to lower cholesterol. There are special margarines, yoghurts, cheeses and snack
bars that can help to lower cholesterol levels. These are made using a plant extract.
However, these products can be expensive. There are many other simple changes to the
diet which can help lower cholesterol. A GP or a dietician can advise affected people and
their families about these.

Drug treatment

Drug treatment is needed for people who are at high risk of heart disease, for whom diet and
lifestyle measures have not reduced blood cholesterol to acceptable levels. Several
cholesterol-lowering drugs treat familial hypercholesterolaemia well. They are available on
prescription. These types of drugs are prescribed commonly for familial
hypercholesterolaemia:

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Statins

Statins are tablets. They work by lowering the production of cholesterol in the liver.
Statins are very effective at lowering cholesterol. They extend life by reducing the risk
of heart disease. Side effects are rare, but if a person who is taking statins gets
generalised muscle aches, these should be reported to the person’s GP. Statins are
not used in children (except when prescribed by a specialist). They are not used in
pregnant women or those who might become pregnant. Statins should not be used by
people with liver or kidney disease.

Resins

Resins are powders. They are taken after mixing with water, fizzy drinks, fruit juice or
yoghurt. Resins are safe for children because they travel through the intestine, and
are not absorbed into the body. Resins go through the digestive system. Some of the
cholesterol sticks to the resins and leaves the digestive system with the bowel
motions. Some doctors recommend that patients who take resins should take extra
folic acid. Many people have side-effects such as flatulence (wind) and difficulty
passing a bowel motion, which limits the use of resins.

Fibrates

Fibrates are tablets. They are useful for people with high blood levels of both
cholesterol and triglycerides (another fat in the blood). These drugs tend not to cause
side effects. Fibrates should not be used during pregnancy or by people with liver or
kidney disease.

Ezetimibe

Ezetimibe is a new drug, a tablet which stops cholesterol from being taken in by the
digestive system. It may sometimes be prescribed for someone who also takes a
statin. At present, Ezetimibe is not recommended for children under 10 years of age.

If you are taking other medicines as well as cholesterol-lowering drugs, it is important that
you discuss this with your doctor. Doses of some other drugs, such as anticoagulants like
warfarin, may need to be adjusted, particularly if a fibrate is used.

Heart Disease Risk Factors

There are many lifestyle changes that can reduce the risk of heart disease. Smoking
increases the risk of heart disease in everybody, but it is particularly important that people
with familial hypercholesterolaemia do not smoke. Obesity (being overweight) and inactivity
are also risk factors. They can be reduced by taking some form of exercise. People who
have not taken exercise recently, or who have been unwell, should seek medical advice
before starting to exercise. The risk can also be reduced by improving the diet, by drinking
alcohol only in moderation and by finding ways to reduce stress

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Familial Hypercholesterolaemia and genes

What is a Gene?

Our bodies are made up of millions of cells. Each cell contains a complete set of genes. We
have thousands of genes. We each inherit two copies of most genes, one copy from our
mother and one copy from our father. Genes act like a set of instructions, controlling our
growth and how our bodies work. Any alteration in these instructions is called a mutation (or
change). Mutations (or changes) can stop a gene from working properly. A mutation
(change) in a gene can cause a genetic disorder. Genes are responsible for many of our
characteristics, such as our eye colour, blood type or height.

Genes contain information used by our bodies in the form of a code. The code is contained
in the order of the chemicals that make up the gene. A mutation (change) is a change in the
code. People with familial hypercholesterolaemia have a mutation (change) in a gene that
controls the amount of cholesterol in the blood. This mutation (change) means that
cholesterol is removed too slowly. Therefore blood cholesterol levels in people with familial
hypercholesterolaemia are much higher than in people who do not have the disease.

How is Familial Hypercholesterolaemia inherited?

Everybody has two copies of the familial hypercholesterolaemia gene, but a person only has
to have one changed copy of the gene to develop the disorder. The normal copy cannot
compensate for the effects of the copy with the change (mutation). When people who have a
familial hypercholesterolaemia gene with a mutation (change) have children, they can pass
on either their normal copy of the gene, or the copy with the mutation (change). This means
there is a 1 in 2, or 50% chance of their child inheriting the gene with the change (mutation).
There is also a 1 in 2 or 50% chance of their child inheriting the normal copy of the gene.
The chances are the same for boys and girls. The chances are the same for every child.
There are hundreds of different mutations (changes) in the familial hypercholesterolaemia
gene that can cause the disease. In a family, affected people will usually share the same
change (mutation).

Genetic Testing

Although genetic testing for familial hypercholesterolaemia is not available routinely through
the National Health Service (NHS) it can be done at specialist centres in the United Kingdom
(UK). Genetic testing can help to sort out the exact cause of raised cholesterol. It can
confirm or exclude the diagnosis in family members whose cholesterol levels are raised, but
not very high. A small extra blood sample is needed for the gene test. It takes 3 to 6 months
to get a result. Genetic testing identifies an exact cause for about half of the people tested.
For the other half of the people tested, an exact cause is not found. The advantage of the
genetic test is that when there is an exact genetic cause found in one affected person, that
person’s children and other blood relatives can be quickly tested for the same gene change
(mutation).

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Giving up Smoking

NHS Smoking Helpline NHS Smoking Helpline 0800 169 0 169
Open 7am to 11pm every day
Senior advisors (counsellors) available 10am to 11pm
Answerphone at other times

Web: www.givingupsmoking.co.uk

Seek out your local National Health Service Stop Smoking Service NHS Stop Smoking
Service

Where can I find more Information?

H∙E∙A∙R∙T UK

7 North Road

Maidenhead

Berkshire

SL6 1PE

Tel: 01628 628 638 Web:www.heartuk.org.uk

British Heart Foundation Web:www.bhf.org.uk

14 Fitzhardinge Street
London
W1H 6DH

Tel: 0207 935 0185

We are grateful to HEART UK for allowing the use of their materials in this information.

This edition prepared in July2005 Ref 26