A case report of familial combined hypercholesterolemia

Abstract

Xanthomas are the characteristic cutaneous presentation in hyperlipoproteinemias. Familial combined hyperlipoproteinemia/type II b presents with high plasma cholesterol, high plasma low density lipoprotein (LDL) cholesterol, moderately high plasma triglycerides. Cutaneous findings include tendinous, tuberous and intertriginous xanthomas and xanthelasma palpebrarum. A 5 year old boy presented with multiple yellowish lesions over the joints, gluteal cleft, popliteal fossa. Family history of second degree consanguinity was present with hyperlipidaemia in father, mother and brother. Early diagnosis and treatment mitigate the excess risk of premature atherosclerotic cardiovascular disease that occurs with familial hypercholesterolemia.

Keywords

• familial combined hypercholesterolemia
• hyperlipidaemias