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)

Chinese expert consensus on early screening and management of homozygous familial hypercholesterolemia(2024)

纯合子家族性高胆固醇血症(HoFH)是严重危及生命的罕见遗传代谢性疾病,以血浆低密度脂蛋白胆固醇水平明显升高、皮肤和/或肌腱黄色瘤和早发动脉粥样硬化性心血管疾病快速进展为主要特征,而早期筛查及治疗可很大程度改善患者预后。近年来,国际上发布了多个有关HoFH的指南和专家共识,呼吁加强对该病的认识及尽早诊治(特别要关注儿童)。虽然我国对家族性高胆固醇血症的诊断与治疗水平较10年前明显提高,但仍面临认知不足、诊治不利等诸多问题和严峻挑战。为此,中华医学会检验医学分会等多个学会组织多学科专家,对HoFH早期筛查与临床管理进行了讨论,并依据国内外最新临床研究证据及相关指南共识,结合我国HoFH患者的临床特点,对一些关键问题提出了共识性观点,并形成13条建议,以期促进HoFH的早期筛查、早期诊断和临床管理的规范化,从而改善患者预后。

Homozygous familial hypercholesterolaemia(HoFH)is a rare and life-threatening genetic metabolic disease.It is characterized by a significant increase in plasma low-density lipoprotein cholesterol levels,multiple xanthomas in skin and tendons,and rapid progression of early-onset atherosclerotic cardiovascular disease.Early screening and treatment can greatly improve the prognosis of patients with HoFH.In recent years,multiple international guidelines and expert consensus documents on HoFH have been released,calling for a strengthened understanding,early diagnosis,and treatment of the disease,with special attention to children.Although the diagnosis and treatment of FH in China have significantly improved compared to ten years ago,it still faces many problems and severe challenges,such as insufficient diagnosis and treatment.To this end,the Chinese Society of Laboratory Medicine,along with several other professional societies,organized interdisciplinary experts to discuss early screening and clinical management of HoFH.Based on the latest clinical research evidence and relevant guidelines,and considering the clinical characteristics of HoFH patients in China,the present consensus views propose some key issues.Furthermore,13 suggestions have been formed to promote the standardization of early screening,early diagnosis,and clinical management of HoFH,aiming to improve the prognosis for patients with this condition.