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 contribution||Clinico-pathological evaluation of patients with homozygous familial hypercholesterolemia|
|Number of pages||6|
|Journal||Recenti Progressi in Medicina|
|Publication status||Published - Sep 1991|
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