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.
[Clinico-pathological evaluation of patients with homozygous familial hypercholesterolemia] / D'Armiento, F.P., Di Gregorio, F., Napoli, C., Colasanti, P., Posca, T., Calì, A.. - In: RECENTI PROGRESSI IN MEDICINA. - ISSN 0034-1193. - STAMPA. - 82:9(1991), pp. 443-448.
[Clinico-pathological evaluation of patients with homozygous familial hypercholesterolemia].
D'ARMIENTO, FRANCESCO PAOLO;
1991
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
