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  • Title: [Clinico-pathological evaluation of patients with homozygous familial hypercholesterolemia].
    Author: D'Armiento FP, Di Gregorio F, Napoli C, Colasanti P, Posca T, Calì A.
    Journal: Recenti Prog Med; 1991 Sep; 82(9):443-8. PubMed ID: 1745828.
    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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