Homozygous type 2 familial hypercholesterolemia

A 59-year-old woman with a history of hypertension and hypercholesterolemia was admitted as a case of Non-ST-elevation myocardial infarction (NSTEMI). Urgent coronary artery angiography was performed and revealed subtotal occlusion of the left main coronary artery and the left anterior descending coronary artery, which indicated the need for an urgent coronary artery bypass grafting (CABG). Dermatology service was consulted prior to the surgery in view of a generalized skin lesion. The patient reported that the skin lesion started to appear at the age of nine and progressed as the patient got older. Four family members including one sibling, two nephews, and one niece also had the same skin lesions, all of whom passed away in their twenties. On examination, multiple tendinous xanthomas were seen on the bilateral hands (A) and feet (B). Webspace plane xanthoma on the right hand, located between the index and the middle fingers (A). Plaques and papules of plane xanthomas on the arms (C) and legs, including the antecubital fossae (D). Lipid profile revealed total cholesterol of 840 mg/dL, LDL of 792 mg/dL, and normal triglycerides. A diagnosis of homozygous type 2 familial hypercholesterolemia was made. It is an autosomal dominant disorder characterized by pure hypercholesterolemia. Homozygotes develop xanthomas during their childhood, have a very high LDL level reaching 800 mg/dL or above, and develop pathognomonic plane xanthomas of the webspaces and the antecubital fossae.