[Type II familial hyperlipoproteinaemia : value of plasma exchange treatment (author's transl)]. / Hypercholestérolémie xanthomateuse familiale homozygote. Que faut-il attendre des échanges plasmtiques?

A 13-year-old boy with homozygous type II familial hyperlipoproteinaemia with marked cutaneous and tendinous xanthomatosis has been followed-up for a 3-year period. Signs of unstable angina developed at the age of 14 years, followed by the onset of a posterodiaphragmatic infarction at 16 years-ion. The usual poor spontaneous prognosis, and the lack of efficacy of medical treatment on blood cholesterol levels, led to suggest the use of plasmapheresis. Treatment was interrupted after three months in spite of its efficacy (blood cholesterol levels reduced by 36.2 p. 100 by the 3rd month); in fact, marked alterations in ventricular function, as shown by non-invasive exploratory tests, risked to provoke an ischaemic accident from hypovolaemia during plasma exchanges. This method is nevertheless the only one currently available that can appreciably lower cholesterolaemia levels in this affection. The treatment, which is not devoid of risks, should be undertaken during the early stages, before ventricular function deteriorates due to progression of atheroma.