Familial Hypercholesterolaemia: The Cape Town Experience

Abstract

Familial hypercholesterolaemia (FH), an autosomal dominantly inherited disorder characterised by elevated plasma LDL cholesterol levels, tendon xanthomata and premature ischaemic heart is amenable to treatment with modern medication. There is a paucity of clinical information on FH in South Africa.

The clinical and biochemical details of 1031 patients who attended the lipid clinic at Groote Schuur Hospital with this diagnosis have been analysed. FH is the commonest monogenic disorder of lipoprotein metabolism presenting to the Lipid Clinic at Groote Schuur Hospital, accounting for about 20% of consultations. The hospital classified 55% of the FH patients as White, 43% as Coloured, 1.5% as Asian and 0.5% as Black. In the FH cohort, whose mean age at presentation was 44 years, 80% had tendon xanthomata, 36% had arcus cornealis and 14% had xanthelasma. Tendon xanthomata were present in almost 90% of patients by the age of 50 years. Arcus cornealis was present in about 45% by the age of 40 years, increasing further with age. Cardiovascular complications included ischaemic heart disease (43%), stroke (1.5%), transient ischaemic attacks (1.3%) and peripheral vascular disease (3.7%). The mean age of death was 55 (±13) years; 51 (±10) years in men and 61 (±12) years in women. In 46% of the cohort a defective gene was identified by testing for locally prevalent mutations.


FH is a common, serious disease that can be diagnosed by clinical manifestations and routine laboratory tests at primary healthcare level. FH affects all ethnic groups in South Africa Effective treatment is available to prevent early and debilitating coronary disease but requires recognition and referral.