FAMILIAL HOMOZYGOUS HYPERCHOLESTEROLEMIA

Abstract

Familial homozygous hypercholesterolemia is a rare genetic disorder. The low-density lipoprotein (LDL) and cholesterol levels are elevated enormously and are resistant to diet therapy or common drug therapy for hyperlipidemia. New hopes have emerged with plasmapheresis, LDL apheresis and liver transplantation.<br /> This is a case report of a 14 year-old boy with familial homozygous hypercholesterolemia not responsive to different types of drugs. At angiography, the patient had multiple atherosclerotic lesions throughout the coronary arteries. After 5 courses of phasmapheresis the total cholesterol and LDL levels decreased by 43% and 40%, respectively, and the patient s symptoms also improved. But as LDL apheresis is not available in our country and not many liver transplantations have yet been performed, it is not known whether to continue the plasmapheresis sessions, and with this is there any hope for the regression of the progressed progressed athero sclerotic lesions (Iranian Heart Journal 2003; 4 (2,3): 77-79).