Peng Jie, Wu Xue, Wang Shilong, Zhang Shuang, Wang Xumin, Liu Zesen, Hong Jing, Ye Pucong, Lin Jie
Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases Beijing, 100029, China; Department of Atherosclerosis, Beijing Anzhen Hospital, Capital Medical University, Beijing, 100029, China.
Department of Echo Cardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, 100029, China.
Atheroscler Suppl. 2019 Mar;36:12-18. doi: 10.1016/j.atherosclerosissup.2019.01.003. Epub 2019 Jan 29.
To investigate the status of familial hypercholesterolemia (FH) research and the characteristics of patients with FH in China.
Published papers in Chinese or English language from PubMed, SinoMed and CNKI databases from 1971 to March 2018 were searched using 'Familial hypercholesterolemia', 'Chinese' and 'Han' as keywords. A systematic review of studies on familial hypercholesterolemia was then conducted.
A total of 391 articles were found, in which 22% were in English and 78% were in Chinese; approximately 43% are case reports and 34% are genetic reports according to the study type; 52% discussed the status of the disease and 11% investigated the subclinical status according to the study content. Furthermore, 96% of the articles were published by tertiary hospitals and 46% were conducted by cardiologists. The first expert consensus was issued in February 2018. Of the 163 case reports published before 2018, 48.7% used the Chinese FH clinical diagnostic criteria and 34.4% did not clearly indicate the diagnostic criteria. The incidence rates of low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) mutations were 82% and 9%, and proprotein convertase subtilisin/kexin type 9 (PCSK9) mutations were rare in Chinese patients with FH. However, the data on lipid-lowering treatment rates, compliance rates and cardiovascular events in FH remain insufficient.
Large-scale epidemiological investigation of FH has not been demonstrated, the recognition of FH remains rudimentary, and the guidelines are incomplete in China. The diagnosis and management of Chinese FH needs to be improved.
调查中国家族性高胆固醇血症（FH）的研究现状及FH患者的特征。
以“家族性高胆固醇血症”“中文”和“汉族”为关键词，检索1971年至2018年3月期间PubMed、中国生物医学文献数据库和中国知网数据库中发表的中文或英文论文。然后对家族性高胆固醇血症的研究进行系统评价。
共检索到391篇文章，其中22%为英文，78%为中文；根据研究类型，约43%为病例报告，34%为基因报告；根据研究内容，52%讨论了疾病现状，11%调查了亚临床状态。此外，96%的文章由三级医院发表，46%由心脏病专家开展研究。2018年2月发布了首个专家共识。在2018年之前发表的163篇病例报告中，48.7%采用了中国FH临床诊断标准，34.4%未明确指出诊断标准。中国FH患者中低密度脂蛋白受体（LDLR）和载脂蛋白B（APOB）突变的发生率分别为82%和9%，前蛋白转化酶枯草溶菌素/kexin 9型（PCSK9）突变罕见。然而，FH患者的降脂治疗率、依从率和心血管事件的数据仍然不足。
中国尚未开展FH的大规模流行病学调查，对FH的认识仍很初步，指南也不完整。中国FH的诊断和管理需要改进。
