Plasma exchange in the management of homozygous familial hypercholesterolaemia.
Two young women with homozygous familial hypercholesterolaemia and coronary and aortic atheroma were treated by repeated plasma exchange, using a continuous-flow blood-cell separator, for 4 and 8 months. A pronounced reduction in plasma cholesterol and low-density lipoprotein (L.D.L.) concentrations was achieved by exchanging each patient's plasma with cholesterol-free plasma protein fraction (B.P.), at 3-weekly intervals on an outpatient basis. By pre-labelling the patients' cholesterol with 14-C and comparing the specific activity of the cholesterol in adipose tissue with that in plasma, evidence was obtained of an influx of tissue cholesterol into plasma after each exchange. There was no side-effects and both patients lost their angina. Plasma exchange offers a new and practical approach to the long-term management of this lethal disorder and may also provide information about the possible reversibility of human atheroma.
D000328:Adult; D001018:Aortic Diseases / Q000628:therapy; D001161:Arteriosclerosis / Q000628:therapy; D002784:Cholesterol / Q000097:blood; D002792:Cholestyramine Resin / Q000008:administration & dosage / Q000627:therapeutic use; D002994:Clofibrate / Q000008:administration & dosage / Q000627:therapeutic use; D003327:Coronary Disease / Q000628:therapy; D005260:Female; D006720:Homozygote; D006801:Humans; D006949:Hyperlipidemias / Q000097:blood / Q000188:drug therapy / Q000235:genetics* / Q000628:therapy*; D008075:Lipoproteins, HDL / Q000097:blood; D008077:Lipoproteins, LDL / Q000097:blood; D009539:Nicotinic Acids / Q000008:administration & dosage / Q000627:therapeutic use; D010956:Plasmapheresis
D008075:Lipoproteins, HDL; D008077:Lipoproteins, LDL; D009539:Nicotinic Acids; D002792:Cholestyramine Resin; D002784:Cholesterol; D002994:Clofibrate