家族性高胆固醇血症亚型——隐性遗传性高胆固醇血症研究进展  

The subtype of familial hypercholesterolemia—the progression of autosomal recessive hypercholesterolemia

作　　者：马斐斐[1] 王绿娅[2] 

机构地区：[1]南华大学基础医学院心血管病研究所,湖南衡阳421001 [2]首都医科大学附属安贞医院,北京100029

出　　处：《国际病理科学与临床杂志》2006年第2期99-101,共3页Journal of International Pathology and Clinical Medicine

基　　金：国家自然科学基金(30470722);北京市自然科学基金(7052021;7062010);北京市科技新星项目(04B27;05A29)

摘　　要：家族性高胆固醇血症(fam ilial hypercholesterolem ia,FH;M IM 143890)是一种常染色体显性遗传性疾病,是脂质代谢疾病中最严重的一种,导致早期发生较为严重的冠心病(coronary artery d isease,CAD)。FH存在一些亚型,其中常染色体隐性遗传性高胆固醇血症(autosom al recessive hypercholesterolem ia,ARH;M IM 603813)纯合患者,可表现为胆固醇水平异常升高、皮肤肌腱黄色瘤和早发的冠心病,临床表现与FH极为相似。Familial hypercholesterolemia is a disease with autosomal dominant heritage. It is the most severe disease of lipid metabolism. It will induce severely coronary artery disease（CAD） in earlier period. Recently, some subtypes have been found in FH. One of them is the autosomal recessive hypercholesterolemia（ARH）. The ARH-homozygotic patients have clinical manifestations such as abnormal cholesterol, xanthoma and premature CAD in earlier period, which are similar to FH.

关 键 词：常染色体隐性高胆固醇血症 衔接子蛋白 家族性高胆固醇血症 

分 类 号：R589.2[医药卫生—内分泌]