Inherited thrombophilia in children with venous thromboembolism and the familial risk of thromboembolism: an observational study
Inherited thrombophilia in children with venous thromboembolism and the familial risk of thromboembolism: an observational study
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DOI：
10.1182/blood-2012-01-405514
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发表时间：
2012-08-16
期刊：
影响因子：
20.3
通讯作者：
Nowak-Goettl, Ulrike
中科院分区：
文献类型：
--
作者：
Holzhauer, Susanne;Goldenberg, Neil A.;Nowak-Goettl, Ulrike
遗传性血栓形成倾向（IT）的筛查是有争议的;需要确定从筛查中获益的静脉血栓栓塞（VTE）高危人群。我们检测了206例儿童VTE患者的533名一级和二级亲属的IT（抗凝血酶、蛋白C、蛋白S、因子V G1691 A、因子II G20210 A），并确定了与其IT状态相关的症状性VTE的发生率。与无IT的家庭成员相比，有IT的家庭成员发生VTE的风险显著增加（风险比= 7.6; 95%置信区间[CI]，4.0-14.5; P < .001），抗凝血酶、蛋白C或蛋白S缺乏症携带者发生VTE的风险最高（风险比= 25.7; 95% CI，12.2-54.2; P < .001）。年发病率为2.82%（95%CI，1.63%-4.80%）在被发现为抗凝血酶、蛋白C或蛋白S缺乏症携带者的家族成员中，0.42%（95%CI，1.63%-4.80%）为（0.12%-0.53%）因子II G202010 A，0.25%（0.12%-0.53%）因子V G1691 A和0.10%（0.06%-0.17%）。考虑到蛋白C、蛋白S和抗凝血酶缺乏症的亲属发生静脉血栓栓塞的绝对风险较高，我们建议在静脉血栓栓塞症患儿及其亲属中筛查这些遗传性血栓形成倾向。需要进行干预性研究，以评估在这一高危人群中是否可以预防血栓栓塞。（血。2012;120（7）：1510-1515）
Screening for inherited thrombophilia (IT) is controversial; persons at high risk for venous thromboembolism (VTE) who benefit from screening need to be identified. We tested 533 first- and second-degree relatives of 206 pediatric VTE patients for IT (antithrombin, protein C, protein S, factor V G1691A, factor II G20210A) and determined the incidence of symptomatic VTE relative to their IT status. The risk for VTE was significantly increased among family members with, versus without, IT (hazard ratio = 7.6; 95% confidence interval [CI], 4.0-14.5; P < .001) and highest among carriers of antithrombin, protein C, or protein S deficiency (hazard ratio = 25.7; 95% CI, 12.2-54.2; P < .001). Annual incidences of VTE were 2.82% (95% CI, 1.63%-4.80%) among family members found to be carriers of antithrombin, protein C, or protein S deficiency, 0.42% (0.12%-0.53%) for factor II G202010A, 0.25% (0.12%-0.53%) for factor V G1691A, and 0.10% (0.06%-0.17%) in relatives with no IT. Given the high absolute risk of VTE in relatives with protein C, protein S, and antithrombin deficiency, we suggest screening for these forms of hereditary thrombophilia in children with VTE and their relatives. Interventional studies are required to assess whether thromboembolism can be prevented in this high-risk population. (Blood. 2012;120(7):1510-1515)