机构：[a]Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases Beijing, 100029, China首都医科大学附属安贞医院[b]Department of Atherosclerosis, Beijing Anzhen Hospital, Capital Medical University, Beijing, 100029, China临床科室动脉硬化门诊首都医科大学附属安贞医院[c]Department of Echo Cardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, 100029, China医技科室超声心动科首都医科大学附属安贞医院[d]Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, 100101, China[e]Department of Endocrinology and Metabolism, China-Japan Friendship Hospital, Beijing, 100029, China[f]Department of Emergency Medicine, Beijing Shijitan Hospital, Capital Medical University, Beijing, 100038, China
Aims: To investigate the status of familial hypercholesterolemia (FH) research and the characteristics of patients with FH in China. Methods: 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. Results: 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. Conclusions: 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. (c) 2019 Published by Elsevier B.V.
基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China [81370443, 81170793]
第一作者机构：[a]Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases Beijing, 100029, China[b]Department of Atherosclerosis, Beijing Anzhen Hospital, Capital Medical University, Beijing, 100029, China
共同第一作者：
通讯作者：
通讯机构：[a]Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases Beijing, 100029, China[b]Department of Atherosclerosis, Beijing Anzhen Hospital, Capital Medical University, Beijing, 100029, China[*1]Anzhen Road, Chaoyang District, 1000292, Beijing, China.
推荐引用方式(GB/T 7714)：
Jie Peng,XueWu,Shilong Wang,et al.Familial hypercholesterolemia in China half a century: A review of published literature[J].ATHEROSCLEROSIS SUPPLEMENTS.2019,36:12-18.doi:10.1016/j.atherosclerosissup.2019.01.003.
APA：
Jie Peng,XueWu,Shilong Wang,Shuang Zhang,Xumin Wang...&Jie Lin.(2019).Familial hypercholesterolemia in China half a century: A review of published literature.ATHEROSCLEROSIS SUPPLEMENTS,36,
MLA：
Jie Peng,et al."Familial hypercholesterolemia in China half a century: A review of published literature".ATHEROSCLEROSIS SUPPLEMENTS 36.(2019):12-18
