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纯合型家族性高胆固醇血症诊疗进展

温文慧 匡泽民 吴月 王旭 武文峰 王绿娅

温文慧, 匡泽民, 吴月, 王旭, 武文峰, 王绿娅. 纯合型家族性高胆固醇血症诊疗进展[J]. 协和医学杂志, 2019, 10(4): 387-392. doi: 10.3969/j.issn.1674-9081.2019.04.015
引用本文: 温文慧, 匡泽民, 吴月, 王旭, 武文峰, 王绿娅. 纯合型家族性高胆固醇血症诊疗进展[J]. 协和医学杂志, 2019, 10(4): 387-392. doi: 10.3969/j.issn.1674-9081.2019.04.015
Wen-hui WEN, Ze-min KUANG, Yue WU, Xu WANG, Wen-feng WU, Lü-ya WANG. Progress in the Diagnosis and Treatment of Homozygous Familial Hypercholesterolemia[J]. Medical Journal of Peking Union Medical College Hospital, 2019, 10(4): 387-392. doi: 10.3969/j.issn.1674-9081.2019.04.015
Citation: Wen-hui WEN, Ze-min KUANG, Yue WU, Xu WANG, Wen-feng WU, Lü-ya WANG. Progress in the Diagnosis and Treatment of Homozygous Familial Hypercholesterolemia[J]. Medical Journal of Peking Union Medical College Hospital, 2019, 10(4): 387-392. doi: 10.3969/j.issn.1674-9081.2019.04.015

纯合型家族性高胆固醇血症诊疗进展

doi: 10.3969/j.issn.1674-9081.2019.04.015
详细信息
    通讯作者:

    王绿娅电话:010-64456436,E-mail:wangluya@126.com

  • 中图分类号: R596;R-1

Progress in the Diagnosis and Treatment of Homozygous Familial Hypercholesterolemia

More Information
    Corresponding author: WANG Lü-ya Tel: 86-10-64456436, E-mail: wangluya@126.com
  • 摘要: 家族性高胆固醇血症(familial hypercholesterolemia,FH)是严重遗传代谢性疾病,临床上分为纯合和杂合两种类型,纯合型FH(homozygous FH,HoFH)发病率为1/(16万~100万),被认为是罕见病。HoFH主要特点为极高水平的低密度脂蛋白胆固醇、多部位黄色瘤及早发动脉粥样硬化性心血管疾病,如不及时诊断、早期治疗, 青少年期即可发生心肌梗死甚至死亡。近年来,国际上也越来越重视FH的早期诊断和治疗,发布了多项FH指南与共识,我国亦结合国情制定了适合中国人的筛查诊断标准,为更好治疗FH提供了基础。本文就HoFH现有的诊断标准、鉴别诊断筛查和治疗方法进行综述,旨在提高医生对该病的认识。
    利益冲突  无
  • 表  1  HoFH主要临床诊断标准

    诊断标准 内容
    美国心脏学会2015年关于FH议程的科学声明[8] 满足以下3个条件之一:
        (1)LDL-C≥10 mmol/L且父母中至少一方为FH
        (2)LDL-C≥10 mmol/L且小于20岁患者有皮肤/肌腱黄色瘤或主动脉瓣疾病
        (3)如无家族史,患者LDL-C > 14 mmol/L (基因检测阳性时,LDL-C可 < 10 mmol/L)
    2014年欧洲动脉粥样硬化学会意见书:改善HoFH的检测与管理[9] 同时满足以下2个条件:
        (1)治疗前LDL-C ≥13 mmol/L或治疗后LDL-C≥ 8 mmol/L
        (2)10岁前出现皮肤/肌腱黄色瘤
    若父母均为HeFH,儿童或成人患者治疗后血脂水平类似父母血脂水平不能排除HoFH诊断
    2014年英国关于HoFH的管理声明[10] 满足以下3个条件之一:
        (1)儿童LDL-C > 11 mmol/L且10岁前出现皮肤/肌腱黄色瘤
        (2)成人LDL-C > 13 mmol/L且有皮肤/肌腱黄色瘤
        (3)血脂达到临床诊断标准且父母双方基因诊断均为HoFH
    2012日本动脉粥样硬化协会FH管理指南[11] 同时满足以下3个条件:
        (1)父母为HeFH
        (2)儿童期有早发ASCVD,特别是早发冠心病
        (3)TC≥16 mmol/L并伴有皮肤/肌腱黄色瘤
    中国《临床冠心病学》[12] 同时满足以下2个条件:
        (1)成人血清TC > 7.8 mmol/L或LDL-C > 4.4 mmol/L,16岁以下儿童TC > 6.7 mmol/L
        (2)患者或亲属有肌腱黄色瘤
    FH:家族性高胆固醇血症;HoFH:纯合型家族性高胆固醇血症;HeFH:杂合型家族性高胆固醇血症;LDL-C:低密度脂蛋白胆固醇;TC:总胆固醇;ASCVD:动脉粥样硬化性心血管疾病
    下载: 导出CSV
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  • 收稿日期:  2018-10-29
  • 刊出日期:  2019-07-30

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