Familial hypercholesterolaemia (FH)

Reviewed by Dr Neal Uren, consultant cardiologist and Dr Dan Rutherford, GP

How is FH treated?
Medicine is always necessary in combination with lifestyle changes. It is difficult to normalise cholesterol levels by dietary changes alone.

The first choice medicines are the statins. These diminish the production of LDL-cholesterol by the liver, which decreases LDL-cholesterol blood levels by up to 50 per cent.

Other medicines used are anion exchange resins (bile acid sequestrants) and fibrates. The former increase the excretion of LDL-cholesterol by preventing its reabsorption from the intestine.

A combined treatment with statins, anion exchange resins and diet will reduce the total cholesterol level in the blood by 30 to 40 per cent and the LDL-cholesterol by a greater amount. Children and adults should be referred to a specialist lipid clinic.

Future prospects

The progress of FH varies greatly. However, in a particular family it tends to follow a similar pattern.

The risk of a fatal heart attack before the age of 40 is significantly higher in those with FH than among the general population.

Research shows that 50 per cent of men and 40 per cent of women with FH have had a blood clot in the coronary arteries before the age of 60.

About one third of patients with FH show no symptoms until sudden cardiac death.

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