Department of Endocrinology, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.
Shanghai Information Center for Life Sciences, Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences, Shanghai 200031, China.
Yi Chuan. 2021 Nov 20;43(11):1011-1022. doi: 10.16288/j.yczz.21-218.
Familial hypercholesterolemia (FH) is an autosomal inherited disease characterized by a significant increase in low density lipoprotein cholesterol (LDL-C), tendon xanthoma and premature coronary artery disease (PCAD). In this paper, we analyze the current research status of FH, summarize the reported mutation gene loci in Chinese FH patients and treatment for them, and elaborate the current status of patents and drug researches. The results show that scientific outcomes of FH are increasing with a good developmental trend and the most popular topics of FH study are pathogenesis, treatment of FH, and research on juvenile FH patients. In terms of patents, large pharmaceutical companies, such as Regeneron Pharmaceuticals Inc, AstraZeneca Plc, Merck & Co Inc, are actively engaged in FH detection, diagnosis and treatment. In addition, 12 drugs have been launched in the United States, Japan, Europe and other countries or regions, bringing hope to FH patients.
家族性高胆固醇血症（FH）是一种常染色体显性遗传性疾病，其特征为低密度脂蛋白胆固醇（LDL-C）显著升高、肌腱黄色瘤和早发冠心病（PCAD）。本文分析 FH 的研究现状，总结中国 FH 患者的基因突变位点和治疗方法，并阐述专利和药物研究现状。结果表明 FH 的科研成果不断增加，呈现良好的发展趋势，FH 研究的热门主题为发病机制、FH 的治疗和青少年 FH 患者的研究。在专利方面，Regeneron Pharmaceuticals Inc、AstraZeneca Plc、Merck & Co Inc 等大型制药公司积极从事 FH 的检测、诊断和治疗。此外，已有 12 种药物在美国、日本、欧洲等国家或地区上市，为 FH 患者带来希望。
