Franco R F, Middeldorp S, Meinardi J R, van Pampus E C, Reitsma P H
Laboratory for Experimental Internal Medicine, Academic Medical Centre, Amsterdam, The Netherlands.
Br J Haematol. 2000 Oct;111(1):118-21. doi: 10.1046/j.1365-2141.2000.02338.x.
A mutation in factor XIII (Val34Leu) was reported to protect against venous thromboembolism. We evaluated the effect of Val34Leu on thrombotic risk in 352 factor V Leiden carriers who were first-degree relatives of 132 thrombotic propositi carrying factor V Leiden. The total observation period was 2,594 years in 92 Val34Leu carriers and 7,444 years in 260 non-carriers. The annual incidence of a first episode of venous thromboembolism was 0.31% in Val34Leu carriers and 0.44% in non-carriers [relative risk (RR) for venous thromboembolism: 0.7, 95% CI 0.3-1.5]. Age-specific RR for venous thromboembolism were (for Val34Leu carriers and non-carriers respectively): 1.0 (95% CI 0.3-3.2) in the age group of 15-30 years, 0.4 (95%, CI 0.05-3.0) in the age group of 30-45 years, 0.6 (95% CI 0.1-2.9) in the group aged 45-60 years and 0.5 (95% CI 0.06-4.5) in relatives older than 60 years. In conclusion, the impact of FXIII Val34Leu on the venous thromboembolic risk is modest, suggesting that screening for this mutation in factor V Leiden carriers is not justified.
据报道，凝血因子XIII的一种突变（Val34Leu）可预防静脉血栓栓塞。我们评估了Val34Leu对352名凝血因子V莱顿突变携带者血栓形成风险的影响，这些携带者是132名携带凝血因子V莱顿突变的血栓形成先证者的一级亲属。92名Val34Leu携带者的总观察期为2594人年，260名非携带者的总观察期为7444人年。Val34Leu携带者首次发生静脉血栓栓塞的年发病率为0.31%，非携带者为0.44%[静脉血栓栓塞的相对风险（RR）：0.7，95%CI 0.3 - 1.5]。静脉血栓栓塞的年龄特异性RR分别为（Val34Leu携带者和非携带者）：15 - 30岁年龄组为1.0（95%CI 0.3 - 3.2），30 - 45岁年龄组为0.4（95%CI 0.05 - 3.0），45 - 60岁年龄组为0.6（95%CI 0.1 - 2.9），60岁以上亲属为0.5（95%CI 0.06 - 4.5）。总之，凝血因子XIII Val34Leu对静脉血栓栓塞风险的影响较小，这表明对凝血因子V莱顿突变携带者进行该突变筛查是不合理的。
