Partial lecithin-cholesterol acyltransferase (LCAT) deficiency syndrome.

This syndrome is a pathological entity of low incidence which mainly affect s high density lipoprotein (HDL) metabolism. We here show the first case re ported in our country, observed in a 63-year-old woman who showed bilateral corneal opacity and eruptive xanthomas in both arms. The lipoprotein profi le disclosed severe hypertriglyceridemia and normocholesterolemia, although the percentage of cholesteryl esters was low. Plasma levels of HDL-cholest erol and HDL major apolipoproteins, A-I and A-II, were markedly decreased. The patient also showed glucose intolerance and hematological alterations r elated to abnormal lipid composition of erythrocyte membranes. As evaluated by the exogen substrate method, LCAT activity proved to be 82% lower in th e patient than in a control subject it is noteworthy that the patient had e xperienced cardiac events and presented hypertension, neither of which has been commonly documented in partial LCAT deficiency syndromes.