Plasma-Exchange Therapy of Homozygous Familial Hypercholesterolemia

Abstract

FAMILIAL hypercholesterolemia is a common, dominantly inherited disease characterized by increases in plasma cholesterol and low-density lipoproteins (LDL), xanthomas, and premature atherosclerosis. Patients with the homozygous form may have plasma LDL concentrations five times normal and atherosclerotic disease in the first two decades of life.¹ Treatment with diet, medication, or operation has met with discouraging results.^{2 3 4 5 6} Previous reports suggested that plasma exchange⁷ or plasmapheresis⁸ could successfully treat severe hypercholesterolemia. We have treated two children with homozygous familial hypercholesterolemia with plasma-exchange therapy for over two years.Patient DataPatient 1 had xanthomas at three years of age. Both parents and one . . .