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携带凝血因子V莱顿突变的非选择性个体家庭成员的静脉血栓形成风险

Venous thrombotic risk in family members of unselected individuals with factor V Leiden.

作者信息

Lensen R P, Bertina R M, de Ronde H, Vandenbroucke J P, Rosendaal F R

机构信息

Department of Clinical Epidemiology, Leiden University Medical Center, The Netherlands.

出版信息

Thromb Haemost. 2000 Jun;83(6):817-21.

Abstract

The factor V Leiden mutation (FVL) leads to a seven-fold increased risk of venous thromboembolism (VTE). In thrombophilic families. 25% of carriers have experienced thrombosis before the age of 40 years. Aim of our study was to assess the association of FVL with VTE in first-degree family members of unselected symptomatic and asymptomatic carriers of FVL. We tested 197 relatives of consecutive thrombosis patients with FVL and 36 relatives of asymptomatic carriers on the presence of FVL and the occurrence of VTE. The incidence of VTE in relatives with FVL of symptomatic carriers was 0.34%/year. This was similar to the incidence in relatives with FVL of asymptomatic carriers. Kaplan Meier analysis in relatives of symptomatic propositi showed that at the age of 58 years, thrombosis-free survival was reduced to 75% in carriers and 93% in non-carriers (P <0.05). Carriers of FVL had a three times higher thrombotic risk than non-carriers. In combination with environmental risk factors, FVL clearly adds to the risk of VTE. The thrombotic incidence rate in these unselected relatives with FVL. however, is considerably lower than was seen in carriers of thrombophilic families (1.7%/year). Therefore, special care should be paid to individuals with a positive family history of venous thrombosis while exposed to these risk factors.

摘要

因子V莱顿突变(FVL)会使静脉血栓栓塞(VTE)风险增加7倍。在血栓形成倾向家族中,25%的携带者在40岁之前经历过血栓形成。我们研究的目的是评估FVL与FVL未被选择的有症状和无症状携带者的一级家庭成员中VTE的关联。我们检测了197名连续的FVL血栓形成患者的亲属以及36名无症状携带者的亲属是否存在FVL和是否发生VTE。有症状携带者的FVL亲属中VTE的发病率为每年0.34%。这与无症状携带者的FVL亲属中的发病率相似。对有症状先证者的亲属进行的Kaplan Meier分析表明,在58岁时,携带者的无血栓生存率降至75%,非携带者为93%(P<0.05)。FVL携带者的血栓形成风险是非携带者的3倍。与环境风险因素相结合,FVL明显增加了VTE的风险。然而,这些未被选择的有FVL的亲属中的血栓形成发病率远低于血栓形成倾向家族的携带者(每年1.7%)。因此,在接触这些风险因素时,应特别关注有静脉血栓形成家族史阳性的个体。

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