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.

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。