Clinical Genetic Testing for Familial Hypercholesterolemia
Clinical Genetic Testing for Familial Hypercholesterolemia
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DOI：
10.1016/j.jacc.2018.05.044
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发表时间：
2018-08-07
影响因子：
24
通讯作者：
Rader, Daniel J.
中科院分区：
文献类型：
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作者：
Sturm, Amy C.;Knowles, Joshua W.;Rader, Daniel J.
尽管人们对家族性高胆固醇血症(FH)的认识越来越多，但这种常见的、可能致命的、可治疗的疾病被低估了，尽管FH是一种遗传性疾病，但基因检测很少使用。家庭式的。高胆固醇血症基金会召集了一个国际专家小组来评估FH基因检测的效用。其基本原理包括：1)便于确诊；2)致病变异表明心血管风险更高，这表明可能需要更积极的降脂；3)更多的开始和坚持治疗；以及4)对高危亲属进行级联检测。专家共识小组建议FH基因检测成为确诊或可能FH患者及其高危亲属的护理标准。检测应包括编码低密度脂蛋白受体(LDLR)、载脂蛋白B(APOB)和原蛋白转换酶枯草杆菌/可可素9(PCS10)的基因；根据患者的表型，可能还需要考虑其他基因进行分析。预期结果包括更多的诊断，更有效的级联测试，在更早的年龄开始治疗，以及更准确的风险批准。(C)2018年，由美国心脏病学院基金会主办，
Although awareness of familial hypercholesterolemia (FH) increasing, this common, potentially fatal, treatable condition emains underdiagnosed, Despite FH being a genetic disorder, genetic testing is rarely used. The Familial. Hypercholeserolemia Foundation convened an international expert panel to assess the utility of FH genetic testing. The rationale includes the following: 1) facilitation of definitive diagnosis; 2) pathogenic variants indicate higher cardiovascular risk, which indicates the potential need for more aggressive lipid lowering; 3) increase in initiation of and adherence to therapy; and 4) cascade testing of at-risk relatives. The Expert Consensus Panel recommends that FH genetic testing become the standard of care for patients with definite or probable FH, as well as for their at-risk relatives. Testing should include the genes encoding the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCS10); other genes may also need to be considered for analysis based on patient phenotype. Expected outcomes nclude greater diagnoses, more effective cascade testing, initiation of therapies at earlier ages, and more accurate risk ratification. (C) 2018 by the American College of Cardiology Foundation,