天津医药 ›› 2019, Vol. 47 ›› Issue (9): 998-1002.doi: 10.11958/20190581

• 综述 • 上一篇    下一篇

家族性高胆固醇血症的诊疗进展

姜丽红,刘戈力△   

  1. 作者单位:天津医科大学总医院儿科(邮编300052) 作者简介:姜丽红(1973),女,博士,副主任医师,主要从事儿科内分泌研究 △审校者及通讯者 E-mail:liugeli2001@126.com
  • 收稿日期:2019-03-01 修回日期:2019-05-19 出版日期:2019-09-15 发布日期:2019-09-18
  • 通讯作者: 刘戈力 E-mail:liugeli2001@126.com

Progress in diagnosis and treatment of familial hypercholesterolemia

JIANG Li-hong, Liu Ge-li△   

  1. Department of Pediatrics, Tianjin Medical University General Hospital, Tianjin 300052, China △Revisor and Corresponding Author E-mail: liugeli2001@126.com
  • Received:2019-03-01 Revised:2019-05-19 Published:2019-09-15 Online:2019-09-18
  • Contact: LIU Geli E-mail:liugeli2001@126.com

摘要: 家族性高胆固醇血症是一种脂蛋白代谢异常的常染色体显性遗传疾病,是早发动脉粥样硬化性心血管疾 病的一个常见遗传原因。尽管该病的终末不良事件发生于中老年人群,但是血管的损伤却开始于胎儿时期。大多 数患者是由于低密度脂蛋白受体(LDLR)、载脂蛋白B(APOB)和前蛋白转化酶枯草溶菌素9(PCSK9)基因突变所致。 对于儿童,间隔3个月的饮食控制2次低密度脂蛋白胆固醇(LDL-C)≥5 mmol/L高度提示该病。通过索引患者的瀑布 式筛查可以早期发现患者;从儿童时期开始给予他汀类药物治疗可以改善血管功能。因此,早期诊断和早期干预对 于改善预后至关重要。本文从病因、诊断、治疗和筛查等方面对该病进行综述。

关键词: 高胆固醇血症, 胆固醇, LDL, 家族性, 他汀类药物, 瀑布式筛查

Abstract: Familial hypercholesterolemia is an autosomal dominant inherited disorder of lipoprotein metabolism. It is a common genetic cause of premature atherosclerotic cardiovascular disease. Although the terminal adverse events of this disease occur frequently in middle-aged and elderly people, the damage to the blood vessels begins in the fetal period. Most patients with familial hypercholesterolemia are caused by mutations in the low density lipoprotein receptor (LDLR), apolipoprotein B (APOB) and proprotein converting enzyme subtilisin 9 (PCSK9). For children, the level of low density lipoprotein cholesterol (LDL-C) is more than 5 mmol/L after dietary control for three months, which is highly suggestive of the disease. Early detection of patients can be achieved by cascade screening for index patients. Statin therapy from childhood can improve vascular function. Therefore, early diagnosis and early intervention are important for improving prognosis. This article reviews the etiology, diagnosis, treatment and screening of the disease.

Key words: hypercholesterolemia, cholesterol, LDL, familial, statins, cascade screening