Needed: New Therapy for Hypercholesterolemia

Abstract

Familial hypercholesterolemia is an unequivocal example of a single-gene defect that produces hypercholesterolemia followed by atherosclerosis. Although the disease is transmitted as a dominant trait, rare patients inherit two copies of the mutant gene and thus express the more severe homozygous form of the disease.1 Studies of these homozygotes have been particularly valuable in extending knowledge of the link between cholesterol and lipoprotein metabolism. The homozygous form of familial hypercholesterolemia is characterized by xanthomatosis, prematurely severe atherosclerosis and fourfold to six-fold elevations of plasma cholesterol in the form of low-density lipoprotein. Despite this massive elevation of plasma cholesterol levels, studies . . .