Improved survival of patients with homozygous familial hypercholesterolaemia treated with plasma exchange.

Abstract

Plasma exchange was undertaken in five patients with homozygous familial hypercholesterolaemia at intervals of two weeks for a mean of 8-4 years. These patients had survived an average of 5 5 years longer than their five respective homozygous siblings (p = 0.03), each of whom must have had a matching genetic defect but who died untreated. The 37% decrease in peak serum cholesterol concentrations maintained by plasma exchange presumably reduced progression of atherosclerosis in the treated patients and thus lessened their risk of premature death.

Vascular Calcifications in Homozygote Familial Hypercholesterolemia

“…This technology has been available for more than 2 decades; in earlier studies, 5-year benefit was achieved by conventional plasma exchange apheresis in genetically matched siblings. 13,16,17 Since the last published data from French-Canadian patients, 5 the mean age of patients reported has increased from a mean of 15 years (1 to 26 years) to 31 (5 to 54 years) in the present study. Although this represents an increase in survival, it does not necessarily describe disease-free survival.…”

“…These techniques remove apoBcontaining lipoprotein particles in a few hours and have been shown to reduce inflammatory marker and improve endothelial function and decrease cardiovascular events. [13][14][15] The procedure is performed every 2 weeks. Canada has 2 centers for selective LDL apheresis using the extracorporeal LDL removal technique based on the Heparin-induced Extracorporeal LDL Precipitation (HELP) technique (Braun Medical): 1 in Québec City and 1 in Edmonton, Alberta.…”

“…The advent of selective extracorporeal removal techniques prolonged survival and improved the quality of life. [13][14][15] Bimonthly treatments are recommended and time-averaged serum load of LDL-C can be effectively reduced by 60% to 65%, and even more with weekly treatments. Cost considerations and access limit broader use of the techniques currently available.…”

Clinical Management of Children and Young Adults with Heterozygous Familial Hypercholesterolaemia in the UK

“…However, serum lipid levels and the extent to which preatheromatous and frankly atheromatous lesions develop are similar in boys and girls before adolescence. 4,13,14,20,21 If drug treatment is delayed in girls beyond the age at which it is started in boys, the question arises as to when it should be commenced. The issue is complicated by considerations of pregnancy and contraception.…”

LDL-cholesterol lowering and atherosclerosis - clinical benefit and possible mechanisms: an update

“…The latter has been shown to reduce mortality of CAD [64]. New tech niques have been developed to replace plasmaphere sis, which selectively remove apolipoprotein-B-► containing lipoproteins from plasma [65][66][67][68][69].…”