Familial Hypercholesterolaemia (FH).

People with familial hypercholesterolaemia (FH) have higher than normal cholesterol levels from birth and they are at high risk of early heart disease. Familial hypercholesterolaemia (FH) is a condition which occurs in about one person in every 500 and is one of the most frequently occurring inherited conditions. It is caused by an abnormal gene (see ‘what is a gene') that results in very high cholesterol levels.

Did you know?

• More than 100,000 people in Britain have FH.
• Early diagnosis allows people to start one of many effective treatments to lower their cholesterol.
• FH is often undetected, with tragic consequences.
• People with FH may be disabled or die from heart disease, often in their 40s or 50s, sometimes earlier.

Family Matters.

If a parent has FH, each of their children has a 50:50 chance of inheriting it. If FH is diagnosed in one person, it is essential that all their close blood relatives have their cholesterol levels measured, so they can start preventative treatment if they have high cholesterol.

Symptoms of FH.

As well as a very high cholesterol level, and a strong family history of early heart disease, FH can sometimes be recognised by outward 'lumps and bumps'. These need the expert eye of a doctor for accurate diagnosis (and not everyone with FH has these signs).

The 'lumps and bumps' may result from cholesterol being deposited on the knuckles and in the Achilles tendon. The resulting swellings are called tendon xanthomata (pronounced zan-thomata ).

Cholesterol may also be deposited in the skin around the eye or eyelid. These deposits are usually yellow and are called xanthelasmas (pronounced zan-thel as- mas ).

Another common visible sign often seen in people with FH 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 we get older, so they do not always mean that someone has FH.

Treatment of FH

Diet

Diet is an essential part of the treatment and management of FH. It is important to keep to a healthy diet even if prescribed medication, as the two work together. There are 'special' margarines, yoghurts, cheeses and snack bars made using a plant extract that can assist with lowering cholesterol levels (e.g. Benecol and Flora Proactiv products). However, these products can be expensive and there are many other simple changes that you can make to your diet which help lower cholesterol. Your GP or a dietician can advise you about these.

Drug Treatment.

Drug treatment is generally reserved for people at high risk of heart disease for whom diet and lifestyle measures have failed to reduce blood cholesterol to acceptable levels. There are several cholesterol lowering drugs available on prescription that treat FH well. The commonly prescribed classes of drugs for FH are:

Statins

Statins come in tablet form and work by slowing down the production of cholesterol in the liver. Statins are thoroughly tested and very effective at lowering cholesterol. They have been shown to extend life by preventing heart disease. Side effects are rare, but if generalised muscle aches occur, this should be reported to your doctor. Statins are not for use in pregnant women or those who might become pregnant.

Resins

Resins come in powder form and are taken by mixing with water, fizzy drinks, fruit juice or yoghurt. Resins are safe for children because they travel through the gut, and are not absorbed into the body, although extra folic acid is recommended. Many people may experience side-effects such as flatulence (wind) and difficulty passing faeces ( poo ), which limits the use of resins.

Fibrates

Fibrates come in tablet form and are useful when both cholesterol and triglycerides (another fat found in the blood) are raised. These drugs tend not to cause side effects. Fibrates should not be used during pregnancy or by individuals with liver or kidney disease.

Ezetimibe

Ezetimibe ( Zetia ) is a new drug, in tablet form, which stops cholesterol from being absorbed by the body. It can sometimes be taken as well as a statin . At present, Ezetimibe is not recommended for children under 10 years old.

Lifestyle Changes

There are many lifestyle changes that can reduce your risk of heart disease. Smoking increases the risk of heart disease in everybody, but it is particularly important that patients with FH do not smoke. Obesity (being overweight) and inactivity are risk factors that can be reduced by taking some form of exercise (seek medical advice if you have not taken exercise recently or have been unwell). Improving your diet, alcohol in moderation and finding ways to reduce stress, can also assist in reducing your risk.

Genetic Testing.

Although genetic testing for FH is not available routinely on the NHS, it can be done at one or two specialist centres in the UK ( London and Belfast ). Genetic testing is sometimes helpful in sorting out the exact cause of raised cholesterol, but at present in about half of the people tested, an exact cause is still unknown. For the test, a small blood sample is needed, and it takes about 2-3 months to get a result. The advantage of the genetic test is that if it gives a clear answer, children and other blood relatives can be tested for the abnormal gene. Relatives who have inherited this can make lifestyle changes or if necessary start appropriate treatment. Diagnosis in relatives is usually made using a blood test, but in children it can occasionally be done using a cheek swab.

FH in Children. It is important to identify FH in childhood, particularly in families in which heart disease is occurring early in adult life. Children should be tested before the age of 10, but generally not before they are two. A diet low in total and saturated fat can be healthy for children over two years of age, provided it contains sufficient calories and nutrients to support normal growth. Parents should seek guidance from a dietician experienced in cholesterol management. Cholesterol lowering drugs should only be prescribed by a specialist clinic.

Our bodies are made up of millions of cells and each cell contains a copy of all our genes. Genes are the instructions that our body has to tell it how things should function. Some genes can start things happening, and others can stop them. Genes are made up of what look to us like long strings of letters that are divided up. As when you write things down, it is very easy to make a spelling mistake, and if this happens, it can change how a gene works.

Giving up smoking. Phone NHS Smoking Helpline 0800 169 0 169 Open 7am - 11pm every day. Senior advisors (counsellors) available 10 am -11pm. Answerphone out of hours. Visit: www.givingupsmoking.co.uk and why not seek out your local NHS Stop Smoking Service ?

Acknowledgements:

• Heart UK for allowing the use of their materials in this leaflet.
• Deepak Bhatnagar and Paul Durrington for the photographs.
• Images reproduced from Printmaster Gold Publishing Suite, version 4.0, Packard Bell 1997

Genetics Knowledge Parks

The Genetics Knowledge Parks began in April 2002, set up as a Department of Health/Department of Trade and Industry initiative and are collaborations between healthcare providers, the public and biotechnology, aiming to exploit the genetics knowledge base across the UK in all aspects of human health and genetics.

Useful websites for further information:

These websites have information about heart disease, and dietary advice, and links to other websites.

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