D'Armiento F P, Di Gregorio F, Napoli C, Colasanti P, Posca T, Calì A
Istituto di Anatomia patologica, II Facoltà di Medicina e Chirurgia, Università, Napoli.
Recenti Prog Med. 1991 Sep;82(9):443-8.
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.
作者研究了8例纯合子家族性高胆固醇血症（FHO）患者，这是一种常染色体显性遗传病，由编码低密度脂蛋白细胞表面受体的基因突变所致。研究发现，血浆中低密度脂蛋白胆固醇和β-载脂蛋白水平升高会引发解剖学和病理学异常。我们还测量了唯一一例尸检病例的血浆和动脉粥样硬化斑块中的丙二醛水平。丙二醛水平是脂质过氧化的一个指标。此外，患者还出现了皮肤黄色瘤病变和严重的心血管疾病。
