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A Case of Heterozygous Familial Hypercholesterolaemia Who Developed Exclusive Peripheral Vascular Disease

Heterozygous familial hypercholesterolaemia affects about one in 500 people in the UK. Many patients are asymptomatic at presentation and are discovered because of the chance finding of hypercholesterolaemia. Clinical manifestations include hypercholesterolaemia, atheroma deposits in the coronary arteries leading to ischaemic heart disease at a young age, the presence of xanthomata in tendons and a family history of hypercholesterolaemia or myocardial infarction below the age of 50.1 Atheromatous deposits may also be found in the root of the aorta and the aortic valve CUSpS2 but is very unusual at other sites. I I describe a patient with heterozygous familial hypercholesterolaemia who exclusively developed aggressive peripheral vascular disease.