中国全科医学2025，Vol.28Issue(36)：4535-4540,4557,7.DOI:10.12114/j.issn.1007-9572.2025.0074
《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
Key Points Interpretation of Chinese Expert Consensus on Early Screening and Management of Homozygous Familial Hypercholesterolemia(2024)
摘要
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.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Key words
Homozygous familial hypercholesterolemia/Early screening/Diagnosis/Management/Expert consensus/Interpretation分类
医药卫生引用本文复制引用
吴慧,王绿娅,李嘉璐,张俊..《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[J].中国全科医学,2025,28(36):4535-4540,4557,7.基金项目
2030科技创新"四大慢病"防治研究国家科技重大专项(2023ZD0503900,2023ZD0503902) （2023ZD0503900,2023ZD0503902）
苏州市重大疾病多中心临床研究项目(DZXYJ202408) （DZXYJ202408）
