家族性高胆固醇血症(F.H.)是一种遗传性疾病,由于受体分子原发性遗传缺陷而引起一系列调节异常,导致高胆固醇血症。遗传缺陷是由于负责低密度脂蛋白(LDL)的细胞表面受体编码的基因发生突变所致。杂合型F.H.病人成纤维细胞和淋巴细胞约有半数正常的LDL受体,部分阻断LDL降解作用,脂蛋白在血浆中蓄积的浓度为正常的2.5倍;纯合型F.H.临床表现型病 Familial hypercholesterolemia (F.H.) is a hereditary disorder that causes a series of abnormalities in regulation due to the primary genetic defects of the receptor molecule resulting in hypercholesterolemia. Genetic defects are due to mutations in the gene encoding the cell surface receptor responsible for low-density lipoprotein (LDL). Heterozygous F.H. patients with fibroblasts and lymphocytes about half of the normal LDL receptor, partial block LDL degradation, the concentration of lipoproteins accumulated in the plasma of normal 2.5 times; homozygous F.H. clinical manifestations of disease