中国实用儿科杂志

中国实用儿科杂志 ›› 2023, Vol. 38 ›› Issue (5): 335-340.DOI: 10.19538/j.ek2023050603

• 指南解读 • 上一篇    下一篇

2021年《儿童和青少年杂合家族性高胆固醇血症风险评估和临床管理专家共识》解读

  

  1. 中国医科大学附属第一医院检验科  国家医学检验临床医学研究中心  中国医学科学院医学检验创新单元，辽宁  沈阳  110001
  • 出版日期:2023-05-06 发布日期:2023-06-12
  • 通讯作者: 王绿娅，电子信箱：wangluya@126.com
  • 基金资助:
    国家重点研发计划重点项目（2021YFC2500600，2021YFC2500602）

Interpretation of Risk Assessment and Clinical Management of Children and Adolescents with Heterozygous Familial Hypercholesterolaemia in 2021

  1. Department of Laboratory Medicine，the First Affiliated Hospital of China Medical；University；Nation Clinical Research Center for Laboratory Medicine；Laboratory Medicine Innovation Unit，Chinese Academy of Medical Science，Shenyang 110001，China
  • Online:2023-05-06 Published:2023-06-12

摘要： 家族性高胆固醇血症（FH）是严重的遗传代谢性疾病，由于基因突变导致体内低密度脂蛋白胆固醇（LDL-C）异常升高，皮肤多部位黄色瘤和早发动脉粥样硬化（AS）。临床将FH分为纯合FH（HoFH）和杂合FH（HeFH）两种类型，HoFH较罕见且严重，而HeFH较为常见，早期诊断、治疗有利于患者预后改善长期的生活质量。近年来国际上已出台多个成人FH管理指南，但针对儿童和青少年的指南报道较少。近期塞尔维亚预防儿科协会和国际脂质专家小组联合发表了《儿童和青少年杂合家族性高胆固醇血症风险评估和临床管理专家共识》，并提出儿童HeFH心血管风险评估和临床管理的综合办法。文章对该共识进行详细解读，以期为中国儿童和青少年HeFH心血管风险评估和临床管理提供参考。

关键词: 家族性高胆固醇血症, 杂合, 儿童, 心血管风险, 血管表型

Abstract: Familial hypercholesterolemia（FH）is a serious inherited metabolic disease. Due to the various types of genetic mutations，the low-density lipoprotein cholesterol （LDL-C） is abnormally elevated，causing premature atherosclerosis and xanthoma in multiple body skin. Clinically，there are two types of FH： homozygous FH （HoFH） and heterozygous FH （HeFH）. HoFH is rare and serious，while HeFH is comparatively common. Early diagnosis and early treatment are essentially beneficial to improving patients' prognosis and long-term quality of life. In recent years，a number of guidelines for the management of adults with FH have been issued globally，but there are few reports on guidelines for children and adolescents. Recently，Associations of Preventive Pediatrics of Serbia，Mighty Medic，and the International Lipid Expert Panel have jointly published Risk Assessment and Clinical Management of Children and Adolescents with Heterozygous Familial Hypercholesterolaemia and proposed a comprehensive approach to cardiovascular risk assessment and clinical management of HeFH in children.This article provides a detailed interpretation of the consensus in order to provide a reference for the cardiovascular risk assessment and clinical management of children and adolescents with HeFH in China.

Key words: familial hypercholesterlolemia, homozygous, child, cardiovascular risk, vascular phenotype