Valutazione clinico-patologica in pazienti affetti da ipercolesterolemia familiare omozigote.

Translated title of the contribution: Clinico-pathological evaluation of patients with homozygous familial hypercholesterolemia

F. P. D'Armiento, F. Di Gregorio, C. Napoli, P. Colasanti, T. Posca, A. Calì

Research output: Contribution to journalArticlepeer-review

Abstract

The authors have studied 8 patients with Homozygous Familial Hypercholesterolemia (FHO) an autosomal genetic dominant disease due to mutation of the gene encoding a cell surface receptor for LDL. Anatomic and pathologic abnormalities caused by LDL-cholesterol and B-Apolipoprotein high plasma levels were found. We also measured malondialdehyde levels in plasma and atherosclerotic plaques of the only autoptic case observed. MDA-levels are an index of lipid peroxidation. Cutaneous xanthomatosis lesions and severe cardiovascular disease were also present.

Translated title of the contributionClinico-pathological evaluation of patients with homozygous familial hypercholesterolemia
Original languageItalian
Pages (from-to)443-448
Number of pages6
JournalRecenti Progressi in Medicina
Volume82
Issue number9
Publication statusPublished - Sep 1991

ASJC Scopus subject areas

  • Medicine(all)

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