Familial hypercholesterolaemia.

Abstract

One out of approximately every 75 white Afrikaners suffers from familial hypercholesterolaemia (FH); the incidence in other South Africans is probably 1 in 500. Nationally, more than 30 000 Afrikaners and altogether 50 000 of all the 'westernized' population groups may be affected. FH is an important contributor to South Africa's coronary heart disease problem, particularly in the younger age groups (25-55 years). The diagnosis of FH can be made by any clinician by a fasting blood cholesterol determination, a physical examination and an investigation of the first-degree relatives of the patient. A total cholesterol level above certain age and specific cutpoints, and/or the presence of tendon xanthomas, plus similar findings in a relative, especially parents, will also make the diagnosis. A family history of early coronary heart disease is also a clue. The goal of treatment should be to normalize the patient's cholesterol level or to get as close as possible to normal by intensive dietary and drug treatment. Only a small fraction of FH subjects are at present being identified and treated, and usually only after they or a family member have suffered a heart attack. A national strategy to facilitate early diagnosis and treatment of FH in South Africa is necessary. The strategy should include education of the public and the medical profession, expansion of existing lipid clinic and genetic services, and standardization of lipid laboratories.