陈盼盼,陆叶,王绿娅

• 1:首都医科大学附属北京安贞医院心内科 北京市心肺血管疾病研究所动脉硬化研究室
• 2:中国药科大学基础医学与临床药学院

摘要(Abstract)：

<正>家族性高胆固醇血症(familial hypercholesterolemia,FH)是一种常染色体遗传疾病,临床分为纯合子型与杂合子型,其中纯合子型FH(HoF H)是一种严重的罕见病~([1])。HoF H患者同时携带两个突变基因导致低密度脂蛋白胆固醇(low density lipoprotein cholesterol,LDL-C)升高,根据突变类型可分为真纯合、复合杂合及双杂合。据报道,HoF H患病率为1/(16~100)×10~4,患者血清LDL-C>13 mmol/L,在不采取

关键词(KeyWords)： 家族性高胆固醇血症;诊断标准;冠心病

Abstract:

Keywords:

基金项目(Foundation):

作者(Author): 陈盼盼,陆叶,王绿娅

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