南方医科大学学报

南方医科大学学报 ›› 2023, Vol. 43 ›› Issue (1): 153-156.doi: 10.12122/j.issn.1673-4254.2023.01.22

• • 上一篇    

家族性高胆固醇血症的诊断及治疗研究进展

郑 华，姜思捷，林立龙   

  1. 南方医科大学南方医院心血管内科，广东 广州 510515
  • 出版日期:2023-01-20 发布日期:2023-02-23

Advances in diagnosis and treatment of familial hypercholesterolemia

ZHENG Hua, JIANG Sijie, LIN Lilong   

  1. Department of Cardiology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China
  • Online:2023-01-20 Published:2023-02-23

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摘要： 家族性高胆固醇血症(FH)是脂蛋白代谢异常所导致的遗传性疾病，通常为常染色体显性遗传，由于长期暴露于高水平低密度脂蛋白下，FH患者发生冠状动脉疾病的风险显著升高。基因检测对FH的诊断至关重要，除此之外，低密度脂蛋白受体功能检测对FH的治疗也具有重要意义。本文将从FH的诊断筛查、治疗方案及低密度脂蛋白受体功能检测等方面进行综述。

关键词: 家族性高胆固醇血症；低密度脂蛋白受体；基因检测

Abstract: : Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease caused by abnormal lipoprotein metabolism. Patients with FH have a significantly increased risk of coronary artery disease (CAD) due to long-term exposure to high levels of low-density lipoprotein (LDL). The diagnosis of FH relies heavily on gene detection, and examination of LDL receptor (LDLR) function is of great significance in its treatment. This review summarizes the current advances in the screening, diagnosis, and treatment of FH and functional analysis of LDLR gene mutations.

Key words: familial hypercholesterolemia; low density lipoprotein receptor; gene detection