Plasma exchange for homozygous familial hypercholesterolaemia: the Cape Town experience

Homozygous familial hypercholesterolaemia (FH) is a rare disorder having a greater frequency in populations with founder effects for the mutations in low density lipoprotein (LDL) receptors. It is characterized by early signs of cholesterol infiltrates with premature coronary artery disease and does not respond to conventional lipid-lowering therapy. Plasma exchange is an established mode of treatment which improves the biochemical abnormality and may allow reversal of the physical manifestations as well as favourably influencing the clinical course of the 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 activity, further lowering of the plasma cholesterol concentration was achieved by adding simvastatin, an hydroxy-methylglutaryl coenzyme A reductase inhibitor. It is concluded that this combined approach may be of benefit in selected cases of homozygous FH undergoing regular plasmapheresis.