关键词: 家族性高胆固醇血症, 纯合子, 早期筛查, 诊断, 专家共识

Abstract: Familial Hypercholesterolemia (FH) is an autosomal dominant genetic disorder, homozygous familial hypercholesterolemia (HoFH) is a rare and life-threatening disorder characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C) levels, multiple xanthomas in skin and tendons, and rapid progression of early-onset atherosclerotic cardiovascular disease (ASCVD). Early diagnosis and early treatment can greatly improve the prognosis of patients, but there are many problems in the diagnosis and treatment of HoFH. In recent years, a number of international guidelines and expert consensus documents on HoFH have been issued, but there are relatively few expert consensuses 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 updated and optimizes the therapeutic protocols. This article provides a detailed interpretation of the consensus in order to offer a reference for the early screening and management of HoFH.

Key words: Familial hypercholesterolemi, Homozygous, Early Screening, Diagnosis, Expert consensus