基金项目:常州市武进区科技发展项目( WS201317)

    作者单位: 213006江苏省常州市，江苏大学附属武进医院心内科

    【摘要】 家族性高胆固醇血症( FH)是一种常见的常染色体显性单基因遗传病，主要临床特征为血浆低密度脂蛋白胆固醇水平升高、黄色瘤、外周动脉粥样硬化和早发冠心病。该病发病率高、危害大、临床认识不足、国内诊断率较低，同时对儿童和孕妇等特殊人群临床治疗证据有限，本文结合近年来国内外对该病的诊治进展及进一步的管理策略做一综述，为临床FH的诊治及管理提供理论基础。

    【文献标识码】A doi: 10. 3969/j. issn. 1007-9572. 2015. 33. 023

    蔡高军.家族性高胆固醇血症的诊治及管理新进展[J].中国全科医学，2015，18 (33) : 4126-4131. [www. chinagp. net]

    Cai GJ. New progress of the diagnosis，treatment and management of familial hypercholesterolemia[J].Chinese General Practice，2015，18 (33) : 4126-4131.

    New Progress of the Diagnosis，Treatment and Management of Familial Hypercholesterolemia CAI Gao-jun. Department of Cardiology，Wujin Hospital Affiliated to Jiangsu University，Changzhou 213006，China

    【Abstract】 Familial hypercholesterolemia (FH) is a common autosomal dominant single-gene genetic disease. Its main clinical features include high plasma low-density lipoprotein cholesterol，xanthoma，peripheral artery atherosclerosis and early -onset coronary heart disease. The disease has high incidence and great harm，while there is a lack of awareness of this disease and a low diagnostic rate in China. Besides ......