Sixteen years of plasma exchange in a homozygote for familial hypercholesterolaemia.

Abstract

This report describes 16 years of plasma exchange in a female familial hypercholesterolaemia homozygote. During childhood she had values for total serum cholesterol of 25-30 mmol l-1. She developed tendon and skin xanthomas before the age of 12 months. Because her total serum cholesterol level was not satisfactorily changed by lipid lowering drugs, plasma exchange was started in 1976. Since then she has had plasma exchange every 3 weeks. She has now reached the age of 42. Her pre-exchange values for serum cholesterol have been 11.1 mmol l-1 (6.79-28.8), while her post-exchange values have been 4.17 mmol l-1 (1.65-10.47). There has been a considerable regression of her xanthomas, and her xanthelasmas have disappeared. No side-effects have been observed during the 16 years of plasma exchange.