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Comparative Study
. 1991 Sep;82(9):443-8.

[Clinico-pathological evaluation of patients with homozygous familial hypercholesterolemia]

[Article in Italian]
Affiliations
  • PMID: 1745828
Comparative Study

[Clinico-pathological evaluation of patients with homozygous familial hypercholesterolemia]

[Article in Italian]
F P D'Armiento et al. Recenti Prog Med. 1991 Sep.

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.

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