AIMS

Familial hypercholesterolaemia (FH) is one of the commonest inherited disorders affecting about 1 in every 500 people in theUK. The condition causes an increase in the "bad" form of blood cholesterol (LDL-cholesterol) which places affected people at much higher risk of suffering heart attacks or angina, or requiring by-pass operations. About 1 in 2 men with FH suffer a heart problem by age 50, and 1 in 3 women suffer a heart problem by age 60. Some sufferers are recognised as having the condition either because they have evidence of fat deposits in the skin or eyes, suffer a heart attack at a very young age, come from a high-risk family, or are found to have an extremely high level of blood cholesterol when they have a blood test (often for an unrelated reason). However, of the 110,000 sufferers thought to exist in theUK, only about 15% are aware that they have the condition.

Statin drugs reduce the blood level of LDL-cholesterol and the risk of heart disease and are a safe and effective preventative intervention in people with FH. There is therefore interest in developing a national screening strategy to detect people with FH early in order that they can receive statins in order to reduce death and disability from heart disease in this group.