Partial lecithin-cholesterol acyltransferase (LCAT) deficiency syndrome

This syndrome is a pathological entity of low incidence which mainly affects high density lipoprotein (HDL) metabolism. We here show the first case reported in our country, observed in a 63-year-old woman who showed bilateral corneal opacity and eruptive xanthomas in both arms. The lipoprotein profi...

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Bibliographic Details
Published inMedicina (Buenos Aires) Vol. 59; no. 1; p. 89
Main Authors Brites, F D, Fernández, K M, Zunino, M J, Yael, M J, Lardo, M, Castro, G R, Wikinski, R L
Format Journal Article
LanguageSpanish
Published Argentina 1999
Subjects
Cholesterol, HDL - blood
Female
Fenofibrate - therapeutic use
Humans
Lecithin Cholesterol Acyltransferase Deficiency - blood
Lecithin Cholesterol Acyltransferase Deficiency - diagnosis
Lecithin Cholesterol Acyltransferase Deficiency - drug therapy
Middle Aged
Syndrome
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Summary:This syndrome is a pathological entity of low incidence which mainly affects high density lipoprotein (HDL) metabolism. We here show the first case reported in our country, observed in a 63-year-old woman who showed bilateral corneal opacity and eruptive xanthomas in both arms. The lipoprotein profile disclosed severe hypertriglyceridemia and normocholesterolemia, although the percentage of cholesteryl esters was low. Plasma levels of HDL-cholesterol and HDL major apolipoproteins, A-I and A-II, were markedly decreased. The patient also showed glucose intolerance and hematological alterations related to abnormal lipid composition of erythrocyte membranes. As evaluated by the exogen substrate method, LCAT activity proved to be 82% lower in the patient than in a control subject. It is noteworthy that the patient had experienced cardiac events and presented hypertension, neither of which has been commonly documented in partial LCAT deficiency syndromes.
ISSN:0025-7680