The LDL receptor defect in familial hypercholesterolemia. Implications for pathogenesis and therapy

Familial hypercholesterolemia was the first genetic disorder recognized to cause myocardial infarction. To this day, it remains the outstanding example of a single gene mutation that causes both hypercholesterolemia and coronary atherosclerosis. Above and beyond its traditional place among diseases of lipid metabolism, familial hypercholesterolemia has acquired importance as a prototype for a class of diseases that result from defects in the process of receptor-mediated endocytosis.