PLASMA-EXCHANGE FOR HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA - THE CAPE-TOWN EXPERIENCE

Homozygous familial hypercholesterolaemia (FH) is a rare disorder havi ng a greater frequency in populations with founder effects for the mut ations in low density lipoprotein (LDL) receptors. It is characterized by early signs of cholesterol infiltrates with premature coronary art ery disease and does not respond to conventional lipid-lowering therap y. Plasma exchange is an established mode of treatment which improves the biochemical abnormality and may allow reversal of the physical man ifestations as well as favourably influencing the clinical course of t he disease. The efficacy, safety and tolerability of this procedure is confirmed by our experience over the 15 years following the previous report. In a subset of these patients who have residual LDL receptor a ctivity, further lowering of the plasma cholesterol concentration was achieved by adding simvastatin, an hydroxy-methylglutaryl coenzyme A r eductase inhibitor. it is concluded that this combined approach may be of benefit in selected cases of homozygous FH undergoing regular plas mapheresis.