Familial hypercholesterolaemia in South Africa: A reminder

摘要

It is ironic that South Africa (SA), known for the high prevalence of familial hypercholesterolaemia (FH)[1] in several population groups due to multiple founder effects, is lagging behind much of the world in the provision of effective and affordable preventive treatment to persons with FH. FH is the most common serious genetic disorder in man and should be managed at a primary healthcare level. Treatment is safe and saves lives. The difficulties in managing FH in SA[2] are also experienced elsewhere: there is a global call to action.[3] FH is an autosomal dominant disorder with a gene dose effect manifesting as heterozygous (heFH) or homozygous (hoFH) phenotypes. Diagnostic criteria can be found in the SA guideline for dyslipidaemia.[4] HeFH can be diagnosed confidently in the presence of an Achilles tendon xanthoma and a total cholesterol concentration of 7.5 mmol/L without hypertriglyceridaemia. Tendon xanthomata, however, are not found in all patients with heFH and are uncommon before adulthood. Patients with severe hypercholesterolaemia and a family history of premature atherosclerotic cardiovascular disease or severe hypercholesterolaemia can be diagnosed with ‘probable heFH’. HoFH usually presents in childhood, with cutaneous and tendinous xanthomata and hypercholesterolaemia 13 mmol/L.