Diffuse giant tendon xanthomas in a patient with familial hypercholesterolaemia

Abstract

Familial hypercholesterolaemia is a genetic disease that provides the best evidence for the causal role of low-density lipoprotein cholesterol in human atherosclerosis. The disease was first described by Muller in 1939 and is characterised by high cholesterol levels from birth, and the subsequent development of tendon and cutaneous xanthomas and premature atherosclerosis. In this case report, we described an 18-year-old female patient who was admitted to the out-patient clinic with swellings on various parts of her body. Her family history, physical examination and laboratory evaluation revealed that these swellings were giant tendon xanthomas caused by familial hypercholesterolaemia. In this report we also discuss the pathogenesis, clinical manifestations, complications and treatment of familial hypercholesterolaemia.