摘要
家族性高胆固醇血症(FH)是常见的常染色体显性遗传代谢病,发病率约为杂合FH为1/(137~350),纯合FH为1/(16万~30万),早期诊断和治疗对于该人群至关重要,但全球超过190个国家的FH检出率甚至不足1%。现在临床上常用的FH诊断标准主要依赖胆固醇水平检查和患者的健康调查信息,在不进行基因检查的情况下确诊率十分有限,所以基因检测被认为是FH诊断的金标准,阳性结果可以直接确诊。国际上常用的FH基因筛查策略包括无差别普查(UniS)、瀑布式筛查(CasS)、反瀑布式筛查(RCS)、目标人群筛查(TarS)以及电子病例库筛选(eHRI)。我国目前尚没有任何国家层面的FH流行病学调查,也没有官方的适应国情和人群的筛查方案和诊断或治疗指南出台,使得我国在这方面严重落后于国际水平。所以当务之急是尽快得出合适的基因检测方法和筛查方案来切实提高我国FH的检出率,再结合临床确保检出患者得到适合的治疗,最大程度的使众多FH患者获益。
Familial hypercholesterolemia (FH) is a common autosomal dominant metabolic disease with an incidence of heterozygous FH:1/(137~350) and homozygous FH:1/(160000~300000).Early diagnosis and treatment are critical to the FH population.But the detection rate of FH is even less than 1% in more than 190 countries.Now the commonly used diagnostic criteria for FH mainly rely on cholesterol level test and patient health survey information.The rate of diagnosis/detection without genetic tests is very limited, so genetic testing is considered to be the gold standard for FH diagnosis.Positive results can be confirmed directly.Common international strategies for FH gene screening include uniform screening(UniS), cascade screening (CasS), reverse cascade screening(RCS), targeted screening (TarS) and e-health record identification(EHRI).At present, there is no FH epidemiological investigation at the national level in China.There is no official national conditions and population screening program and diagnosis or treatment guidelines issued, making our country lag behind the international standard in this respect.It is necessary to obtain the appropriate gene testing method and screening program as soon as possible to improve the detection rate of FH in our country, and to ensure that the patients can get the appropriate treatment in combination with clinical practice, so as to benefit many patients with FH to the greatest extent.
作者
程仕彤
吴月
江龙
韩晓旭
王绿娅
尚红
CHENG Shitong;WU Yue;JIANG Longs;HAN Xiaoxu4;WANG Lvya;SHANG Hong(Department of Laboratory Medicine,First Affiliated Hospital of China Medical University,Shenyang,Liaoning 110001,China;Department of Atherosclerosis,Beijing Anzhen Hospital Affiliated to Capital Medical University,Beijiing 100029,China;Department of Cardiology,the Second Affiliated Hospital of Nanchang University,Nanchang ,Jiangxi 330006,China;the First Hospital of China Medical University & Key Laboratory of AIDS Immunology of Ministry of Health,Shenyang,Liaoning 110001,China)
出处
《中国动脉硬化杂志》
CAS
2018年第11期1184-1188,共5页
Chinese Journal of Arteriosclerosis
关键词
家族性高胆固醇血症
基因筛查
基因筛查策略
检出率
familial hypercholesterolemia
genetic screening
genetic screening strategy
detection rate
作者简介
程仕彤,博士,讲师,研究方向为分子基因分析、个体化基因检测及家族性高胆固醇血症,E-mail:stdyefeng@hotmail.com;通信作者:王绿娅,研究员,主任医师,博士研究生导师,主要研究方向为血脂异常与动脉粥样硬化的发病机制,E-mail:wangluya@126.com;通信作者:尚红,主任医师,教授,博士研究生导师,主要研究方向为临床检验、个体化医学检测及中国人群实验室检测项目参考区间,E-mail:hongshang100@hotmail.com。
