Familial Hypercholesterolemia: A Genetic Defect in the Low-Density Lipoprotein Receptor

FAMILIAL hypercholesterolemia, an example of a single-gene disorder that produces both hypercholesterolemia and atherosclerosis in man,1 2 3 is characterized by four cardinal features: hypercholesterolemia resulting from an elevated plasma concentration of low-density lipoprotein; tendon xanthomas; premature coronary heart disease; and autosomal-dominant inheritance. In patients who have inherited a single copy of the gene for familial hypercholesterolemia, the plasma cholesterol level is about 300 to 500 mg per 100 ml from birth, but symptoms do not develop until the third to the sixth decade, when tendon xanthomas and coronary heart disease appear. In patients who have inherited two copies of the gene, . . .