儿童期家族性高胆固醇血症的诊治进展  

Progress in diagnosis and treatment of familial hypercholesterolemia in children

作　　者：樊雅青 彭及雅 米蓁 张大庆[1] FAN Ya-qing;PENG Ji-ya;MI Zhen;ZHANG Da-qing(Shengjing Hospital of China Medical University,Shenyang 110004,China)

机构地区：[1]中国医科大学附属盛京医院,辽宁沈阳110004

出　　处：《实用药物与临床》2021年第5期466-471,共6页Practical Pharmacy and Clinical Remedies

基　　金：辽宁省教育厅项目(JC2019013)。

摘　　要：家族性高胆固醇血症是一种遗传性疾病,易导致早期动脉粥样硬化和心血管并发症。早期诊断和有效的治疗是临床面临的挑战。基因诊断是金标准,儿童期家族性高胆固醇血症的诊断通常基于低密度脂蛋白-胆固醇水平和相关家族史。目前,儿童期家族性高胆固醇血症患者的治疗策略应以生活方式干预为基础,尽早启用他汀类药物联合依折麦布、米泊美生和PCSK9抑制剂的临床证据亦逐渐增多,有望成为新的治疗手段。Familial hypercholesterolemia is a hereditary genetic disorder,as a predisposing factor of premature atherosclerosis and cardiovascular complications.Early diagnosis and effective treatment are the clinical challenges.Genetic diagnosis is the gold standard.The diagnosis of familial hypercholesterolemia in childhood is usually dependent on LDL-C level and related family history.At present,the treatment strategy for children with familial hypercholesterolemia is based on lifestyle intervention,and statins should be used as early as possible in combination with ezetimibe.The clinical evidence of mipomersen sodium and PCSK9 inhibitors has been accumulated,which is expected to become a new treatment method.

关 键 词：家族性高胆固醇血症 儿童期 低密度脂蛋白-胆固醇 降脂治疗 他汀类药物 

分 类 号：R725.8[医药卫生—儿科]