Familial Hypercholesterolaemia

Authored by , Reviewed by Dr Adrian Bonsall on | Certified by The Information Standard

Familial hypercholesterolaemia is inherited high cholesterol. It is a condition where you have a very high cholesterol level in your blood.

It is called familial because it runs in the family (the other word for this is 'inherited'). The condition affects about 1 in 500 people.

  • Having a high cholesterol level doesn't make you feel ill. You won't know you have it without having a blood test.
  • The most important feature is the development of heart disease at a young age. This is caused by patches (plaques) of atheroma developing within the walls of the heart (coronary) arteries (see below). This can lead to a heart attack (myocardial infarction) as a young adult. You might also notice:
    • Xanthomas - fatty cholesterol-rich deposits in the skin, usually found around the elbows, knees, buttocks and tendons.
    • Xanthelasma - fatty deposits in the eyelids.
    • Arcus senilis - a white ring around the cornea (the coloured part of the eye).

You may be diagnosed by chance if you go for a health screening check or you may notice fatty deposits on the skin or around the eyes.

Another member of your family may be diagnosed with familial hypercholesterolaemia or have a heart attack (myocardial infarction) before the age of 50, and you may be advised to have a check yourself. You will be advised to have a blood test to check your cholesterol.

Familial hypercholesterolaemia is suspected in adults if the total cholesterol is 7.5 mmol/L or greater, or the LDL cholesterol (a particular type of cholesterol) is 4.9 mmol/L or greater. In children (between the ages of 10 and 15 years) the levels are 6.7 mmol/L and 4.0 mmol/L respectively.

This photo shows the typical signs of high cholesterol around the eyes - these pale deposits are called xanthelasma:

Xanthelasma

There are more detailed ways of diagnosing familial hypercholesterolaemia, using the 'Broome criteria'. These take into account your cholesterol level; the levels of first-degree and second-degree relatives; signs of cholesterol build-up on tendons; and some detailed genetic tests.

You can read more about the Broome criteria in the National Institute for Health and Care Excellence (NICE) guidelines in the 'Further reading' section. 

Being a genetic disorder, familial hypercholesterolaemia is not caused by an unhealthy lifestyle. However, keeping yourself in the best physical condition will help to prevent future problems. Things you can do to help yourself include:

You will be offered medication to help bring your cholesterol level down. The usual medicine to start with is a statin. The most common statin used is called simvastatin. If the level does not come down, another medicine called ezetimibe is sometimes added.

Affected children usually start statin medication in late childhood or early adolescence. Some children may need apheresis. This is a treatment which filters LDL cholesterol out of the blood. It is offered to those who have the greatest risk of developing problems - in particular, those with the rare form of familial hypercholesterolaemia where they have inherited a faulty gene from each parent.

Your GP may want to discuss referring you to a specialist. A specialist can advise about your treatment and arrange the testing of close members of your family.

The outlook (prognosis) for people with heterozygous familial hypercholesterolaemia is usually good if they maintain a healthy lifestyle, have regular checks and take their medication without fail. The most significant complication is heart disease or another cardiovascular disease that may develop at a younger age than usual.

Further reading and references

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