Department of General Internal Medicine, Bern University Hospital, University of Bern, Switzerland; Division of General Internal Medicine, Lausanne University Hospital, Switzerland.
CTU Bern and Institute of Social and Preventive Medicine (ISPM), University of Bern, Switzerland.
Am J Med. 2017 Oct;130(10):1220.e17-1220.e22. doi: 10.1016/j.amjmed.2017.05.026. Epub 2017 Jun 9.
The value of genetic thrombophilia testing in elderly patients with an unprovoked venous thromboembolism is unclear. We assessed whether the Factor V Leiden and the prothrombin G20210A mutation are associated with recurrent venous thromboembolism in elderly patients in a prospective multicenter cohort study.
We genotyped the Factor V Leiden and the prothrombin G20210A mutation in 354 consecutive in- and outpatients aged ≥65 years with a first unprovoked venous thromboembolism from 9 Swiss hospitals. Patients and managing physicians were blinded to testing results. The outcome was recurrent symptomatic venous thromboembolism during follow-up. We examined the association between the Factor V Leiden and the prothrombin G20210A mutation and venous thromboembolism recurrence using competing risk regression, adjusting for age, sex, and periods of anticoagulation as a time-varying covariate.
Overall, 9.0% of patients had a Factor V Leiden and 3.7% had a prothrombin G20210A mutation. At 36 months of follow-up, patients with a Factor V Leiden and a prothrombin G20210A mutation had a cumulative incidence of recurrent venous thromboembolism of 12.9% (95% confidence interval [CI], 5.1%-30.8%) and 18.5% (95% CI, 4.9%-56.5%), respectively, compared with 16.7% (95% CI, 12.5%-22.1%) of patients without mutation (P = .91 by the log-rank test). After adjustment, neither the Factor V Leiden (sub-hazard ratio 0.98; 95% CI, 0.35-2.77) nor the prothrombin G20210A mutation (sub-hazard ratio 1.15; 95% CI, 0.25-5.19) was associated with recurrent venous thromboembolism.
Our results suggest that testing for genetic thrombophilia may not be beneficial in elderly patients with a first unprovoked venous thromboembolism.
遗传性血栓形成倾向检测在无诱因静脉血栓栓塞的老年患者中的价值尚不清楚。我们评估了在一项前瞻性多中心队列研究中，因子 V 莱顿和凝血酶原 G20210A 突变是否与老年患者的复发性静脉血栓栓塞有关。
我们对来自瑞士 9 家医院的 354 例年龄≥65 岁的首次无诱因静脉血栓栓塞的住院和门诊患者进行了因子 V 莱顿和凝血酶原 G20210A 突变的基因分型。患者和管理医生对检测结果不知情。主要终点是随访期间复发性有症状静脉血栓栓塞。我们使用竞争风险回归来检查因子 V 莱顿和凝血酶原 G20210A 突变与静脉血栓栓塞复发之间的关联，调整年龄、性别和抗凝治疗期间作为时变协变量。
总体而言，9.0%的患者有因子 V 莱顿突变，3.7%的患者有凝血酶原 G20210A 突变。在 36 个月的随访期间，有因子 V 莱顿和凝血酶原 G20210A 突变的患者静脉血栓栓塞复发的累积发生率分别为 12.9%（95%置信区间，5.1%-30.8%）和 18.5%（95%置信区间，4.9%-56.5%），而无突变的患者为 16.7%（95%置信区间，12.5%-22.1%）（对数秩检验，P=0.91）。调整后，因子 V 莱顿（亚危险比 0.98；95%置信区间，0.35-2.77）和凝血酶原 G20210A 突变（亚危险比 1.15；95%置信区间，0.25-5.19）均与复发性静脉血栓栓塞无关。
我们的结果表明，在首次无诱因静脉血栓栓塞的老年患者中，检测遗传性血栓形成倾向可能没有益处。
