title: Familial hypercholesterolaemia: the Cape Town experience.
abstract: Familial hypercholesterolaemia (FH), an autosomal dominantly inherited disorder characterised by elevated plasma low-density lipoprotein (LDL) cholesterol levels, tendon xanthomata and premature ischaemic heart disease, is amenable to treatment with modern medication. The clinical and biochemical details of 1 031 patients with FH were analysed. FH is the most common 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 was 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, further increasing in frequency 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.
authors: Lipidology Division, Department of Internal Medicine, Groote Schuur Hospital and University of Cape Town.
authors: Jean C
authors: JC
authors: Firth
authors: A David
authors: AD
authors: Marais
mesh_terms: D000367:Age Factors; D001112:Arcus Senilis / Q000453:epidemiology / Q000209:etiology; D002318:Cardiovascular Diseases / Q000453:epidemiology / Q000209:etiology; D002784:Cholesterol / Q000097:blood; D005260:Female; D005838:Genotype; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D044469:Racial Groups; D012737:Sex Factors; D013019:South Africa / Q000453:epidemiology; D014280:Triglycerides / Q000097:blood; D014973:Xanthomatosis / Q000453:epidemiology / Q000209:etiology
chemical_list: D014280:Triglycerides; D002784:Cholesterol