New Case Detection by Cascade Testing in Familial Hypercholesterolemia A Systematic Review of the Literature
New Case Detection by Cascade Testing in Familial Hypercholesterolemia A Systematic Review of the Literature
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DOI：
10.1161/circgen.119.002723
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发表时间：
2019-11-01
影响因子：
7.4
通讯作者：
Kullo, Iftikhar J.
中科院分区：
文献类型：
--
作者：
Lee, Christopher;Rivera-Valerio, Miriannie;Kullo, Iftikhar J.
背景：家族性高胆固醇血症的患病率为1/250，但方法：我们对已发表的关于家族性高胆固醇血症的级联试验的研究进行了系统的综述，这些研究报告了指标病例的数量和被检测的亲属的数量，以及具体的联系亲属的方法和所采用的检测方法。对于每项研究，我们计算了收益率(检测呈阳性的亲属的比例)和每个指标性病例的新病例，以便于比较。结果：我们从文献中确定了10项符合纳入标准的研究；每项研究的先证者和亲属的平均数量分别为242和826人。平均得率为44.76%(30%~60.5%)，平均每例新病例数为1.65例(0.22%~8.0%)。在以下研究中，每个指示病例的新病例往往更多：直接接触与间接接触(2.06比0.86)，超越一级亲属与仅一级亲属(3.65比0.80)测试，使用积极样本收集与临床收集(4.11比1.06)，以及利用基因检测与生化检测(2.47比0.42)。结论：家族性高胆固醇血症串联检测项目中的新病例发现率往往较高，包括亲属直接接触、一级亲属以外的检测、在家中采集样本和进行基因检测。这些发现应该有助于在美国建立级联测试计划。
Background: The prevalence of familial hypercholesterolemia is 1 in 250, but Methods: We conducted a systematic review of published studies in the English language of cascade testing for familial hypercholesterolemia, which reported the number of index cases and number of relatives tested and specified methods of contacting relatives and testing modalities methods utilized. For each study, we calculated yield (proportion of relatives who test positive) and new cases per index case, to facilitate comparison. Results: We identified 10 studies from the literature that met inclusion criteria; the mean number of probands and relatives per study was 242 and 826, respectively. The average yield was 44.76% with a range of 30% to 60.5%, and the mean new cases per index case was 1.65 with a range of 0.22 to 8.0. New cases per index case tended to be greater in studies that used direct contact versus indirect contact (2.06 versus 0.86), tested beyond first-degree relatives versus only first-degree relatives (3.65 versus 0.80), used active sample collection versus collection at clinic (4.11 versus 1.06), and utilized genetic testing versus biochemical testing (2.47 versus 0.42). Conclusions: New case detection in familial hypercholesterolemia cascade testing programs tended to be higher with direct contact of relatives, testing beyond first-degree relatives, in-home-based sample collection, and genetic testing. These findings should be helpful for establishing cascade testing programs in the United States.