The Evaluation of Cascade Testing for Familial Hypercholesterolemia
The Evaluation of Cascade Testing for Familial Hypercholesterolemia
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DOI：
10.1002/ajmg.a.34368
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发表时间：
2012-01-01
影响因子：
2
通讯作者：
Wald, Nicholas J.
中科院分区：
文献类型：
--
作者：
Morris, Joan K.;Wald, David S.;Wald, Nicholas J.
家族性高胆固醇血症（FH）是一种常染色体显性遗传疾病，在年轻时具有冠心病的高风险，可通过降胆固醇药物降低。用计算机模拟的方法对跳频信号级联检测的三种策略的筛选性能进行了评估（一旦个体被诊断患有FH，则搜索患有FH的亲属的过程）：（i）测试父母、兄弟姐妹和子女（ii）测试（i）和测试随后鉴定的患有FH的亲属的一级亲属，和（iii）测试（ii）以及当患有FH的个体的第一级亲属不可用时测试阿姨、叔叔、侄子、侄女、祖父母和第一堂兄弟（第二级或第三级亲属）。对于级联试验，为了达到80%的检出率，需要确定（i）25%，（ii）11%和（iii）8%的不相关FH指数病例。为了识别这些不相关的FH指数病例，（i）45%（ii）23%和（iii）17%的FH个体需要独立于级联试验进行识别。级联试验不是一种适合人群筛查FH的方法，因为需要一种单独的方法系统地识别新的FH指数病例，以实现人群中FH检测的合理水平。这种识别新病例的替代系统方法本身可以是人口筛查方法。(C)2011 Wiley Periodicals，Inc.
Familial hypercholesterolemia (FH) is an autosomal dominant disorder with a high risk of coronary heart disease at a young age that can be reduced by cholesterol- lowering drugs. Computer simulation was used to estimate the screening performance of three strategies of cascade testing for FH (a process of searching for relatives with FH once an individual is diagnosed with FH): (i) testing parents, siblings, and children (1st degree relatives) of an FH index case, (ii) testing (i) and testing 1st degree relatives of subsequently identified relatives with FH, and (iii) testing (ii) and also testing aunts, uncles, nephews, nieces, grandparents, and first cousins (2nd or 3rd degree relatives) when 1st degree relatives of an individual with FH are not available. For cascade testing to achieve detection rates of 80%, (i) 25%, (ii) 11%, and (iii) 8% ofFHindex cases who are unrelated need to be identified. To identify these unrelated FH index cases, (i) 45% (ii) 23%, and (iii) 17% of all individuals with FH need to be identified independently of cascade testing. Cascade testing is not a suitable method of population screening for FH, because a separatemethod of systematically identifying new FH index cases is required to achieve a reasonable level of FH detection in the population. Such an alternative systematic method of identifying new cases could itself be the method of population screening. (C) 2011 Wiley Periodicals, Inc.