中国全科医学 ›› 2025, Vol. 28 ›› Issue (36): 4535-4540.DOI: 10.12114/j.issn.1007-9572.2025.0074

• 指南解读 • 上一篇    下一篇

《纯合子家族性高胆固醇血症早期筛查与管理中国专家共识(2024年)》要点解读

吴慧1, 王绿娅2, 李嘉璐3, 张俊3,*()   

  1. 1.215000 江苏省苏州市,南京医科大学姑苏学院
    2.100029 北京市心肺血管疾病研究所动脉粥样硬化研究室
    3.215000 江苏省苏州市,南京医科大学附属苏州医院(苏州市立医院)心血管内科
  • 收稿日期:2025-04-08 修回日期:2025-05-20 出版日期:2025-12-20 发布日期:2025-12-04
  • 通讯作者: 张俊

  • 作者贡献:

    吴慧提出主要研究目标,负责研究的构思、设计与研究的实施,撰写论文;王绿娅、李嘉璐进行论文的修订;张俊负责文章的质量控制与审查,对文章整体负责,监督管理。

  • 基金资助:
    2030科技创新"四大慢病"防治研究国家科技重大专项(2023ZD0503900,2023ZD0503902); 苏州市重大疾病多中心临床研究项目(DZXYJ202408)

Key Points Interpretation of Chinese Expert Consensus on Early Screening and Management of Homozygous Familial Hypercholesterolemia (2024)

WU Hui1, WANG Luya2, LI Jialu3, ZHANG Jun3,*()   

  1. 1. Gusu School, Nanjing Medical University, Suzhou 215000, China
    2. Department of Atherosclerosis, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing 100029, China
    3. Cardiovascular Medicine, the Affiliated Suzhou Hospital of Nanjing Medical University (Suzhou Municipal Hospital) , Suzhou 215000, China
  • Received:2025-04-08 Revised:2025-05-20 Published:2025-12-20 Online:2025-12-04
  • Contact: ZHANG Jun

摘要: 家族性高胆固醇血症(FH)是严重的遗传代谢病,其中纯合子FH(HoFH)罕见且严重。早期筛查及诊治可很大程度改善患者预后,但国内外对HoFH的识别和管理严重不足。近年来国际上已出台多个关于FH的指南和专家共识,但针对HoFH的专家共识较少。近期中华医学会检验医学分会等多学科专家联合发表了《纯合子家族性高胆固醇血症早期筛查与管理中国专家共识(2024年)》,明确了HoFH的早期筛查和诊断流程,更新优化了治疗策略。本文结合本团队的HoFH家系筛查工作对该共识五大要点进行详细解读,包括:(1)引入人工智能多维度优化HoFH早期筛查策略;(2)细化HoFH临床诊断标准,强化基因诊断协同重要性;(3)深化产前诊断与新生儿筛查的重要性;(4)关注植物固醇血症与HoFH的鉴别诊断;(5)更新优化HoFH治疗策略,分层设定低密度脂蛋白胆固醇治疗目标值。并结合筛查HoFH的实践提出以临床实践为驱动,聚焦HoFH长期管理,以期为我国HoFH的早期筛查与临床管理提供参考。

关键词: 纯合子家族性高胆固醇血症, 早期筛查, 诊断, 管理, 专家共识, 解读

Abstract:

Familial hypercholesterolemia (FH) is a severe inherited metabolic disorder. Early diagnosis and early treatment can greatly improve the prognosis of patients, but the recognition and management of homozygous familial hypercholesterolemia (HoFH) remain severely inadequate globally. In recent years, a number of international guidelines and expert consensus documents on FH have been issued, but there are relatively few expert consensuses specifically on HoFH. Recently, the Chinese Society of Laboratory Medicine and a multidisciplinary expert panel have developed and published the Chinese Expert Consensus on Early Screening and Management of Homozygous Familial Hypercholesterolemia (2024) , which clarifies the early identification and diagnosis process of HoFH and updates and optimizes the therapeutic protocols. This article provides a detailed interpretation of the five key points of this consensus based on our team's HoFH family screening practice, including: (1) Introducing artificial intelligence for multidimensional optimization of HoFH early screening strategies; (2) Refining clinical diagnostic criteria for HoFH and emphasizing the importance of gene diagnosis collaboration; (3) Highlighting the significance of prenatal diagnosis and newborn screening; (4) Focusing on the differential diagnosis between sterolemia and HoFH; (5) Updating and optimizing HoFH treatment strategies with stratified low-density lipoprotein cholesterol treatment target values. Additionally, combining HoFH screening practices, this article proposes driving clinical practice and focusing on long-term HoFH management, aiming to provide references for early screening and clinical management of HoFH in China.

Key words: Homozygous familial hypercholesterolemia, Early screening, Diagnosis, Management, Expert consensus, Interpretation

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