From the Departments of Obstetrics and Gynecology, University of North Carolina, Chapel Hill, North Carolina; University of Utah, Salt Lake City, Utah; University of Alabama at Birmingham, Birmingham, Alabama; University of Texas Southwestern Medical Center, Dallas, Texas; The Ohio State University, Columbus, Ohio; University of Tennessee, Memphis, Tennessee; University of Pittsburgh, Pittsburgh, Pennsylvania; Wayne State University, Detroit, Michigan; University of Cincinnati, Cincinnati, Ohio; University of Miami, Miami, Florida; University of Texas at San Antonio, San Antonio, Texas; Thomas Jefferson University, Philadelphia, Pennsylvania; and The George Washington University Biostatistics Center, Washington, DC; and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland.
Obstet Gynecol. 2010 Mar;115(3):521-525. doi: 10.1097/AOG.0b013e3181d018a8.
To estimate whether there is a correlation between family history of venous thromboembolism and factor V Leiden mutation carriage in gravid women without a personal history of venous thromboembolism.
This is a secondary analysis of a prospective observational study of the frequency of pregnancy-related thromboembolic events among carriers of the factor V Leiden mutation. Family history of venous thromboembolism in either first- or second-degree relatives was self-reported. Sensitivity, specificity, and positive and negative predictive values of family history to predict factor V Leiden mutation carrier status were calculated.
Women without a personal venous thromboembolism history and with available DNA were included (n=5,168). One hundred forty women (2.7% [95% confidence interval (CI) 2.3-3.2%]) were factor V Leiden mutation-positive. Four hundred twelve women (8.0% [95% CI 7.3-8.7%]) reported a family history of venous thromboembolism. Women with a positive family history were twofold more likely to be factor V Leiden mutation carriers than those with a negative family history (23 of 412 [5.6%] compared with 117 of 4,756 [2.5%], P<.001). The sensitivity, specificity, and positive predictive value of a family history of a first- or second-degree relative for identifying factor V Leiden carriers were 16.4% (95% CI 10.7-23.6%), 92.3% (95% CI 91.5-93.0%), and 5.6% (95% CI 3.6-8.3%), respectively.
Although a family history of venous thromboembolism is associated with factor V Leiden mutation in thrombosis-free gravid women, the sensitivity and positive predictive values are too low to recommend screening women for the factor V Leiden mutation based solely on a family history.
评估无静脉血栓栓塞个人史的孕妇中，家族静脉血栓栓塞史与因子 V 莱顿突变携带之间是否存在相关性。
这是一项针对因子 V 莱顿突变携带者妊娠相关血栓栓塞事件频率的前瞻性观察研究的二次分析。一级或二级亲属的静脉血栓栓塞家族史为自我报告。计算家族史预测因子 V 莱顿突变携带者状态的敏感性、特异性、阳性和阴性预测值。
纳入了无个人静脉血栓栓塞史且有可用 DNA 的女性（n=5168）。140 名女性（2.7%[95%置信区间（CI）2.3-3.2%]）为因子 V 莱顿突变阳性。412 名女性（8.0%[95%CI 7.3-8.7%]）报告有静脉血栓栓塞家族史。阳性家族史的女性发生因子 V 莱顿突变的可能性是阴性家族史女性的两倍（412 名中的 23 名[5.6%]与 4756 名中的 117 名[2.5%]，P<.001）。一级或二级亲属的家族史对识别因子 V 莱顿携带者的敏感性、特异性和阳性预测值分别为 16.4%（95%CI 10.7-23.6%）、92.3%（95%CI 91.5-93.0%）和 5.6%（95%CI 3.6-8.3%）。
尽管无静脉血栓栓塞史的孕妇中存在家族静脉血栓栓塞史与因子 V 莱顿突变相关，但敏感性和阳性预测值太低，不能仅基于家族史推荐对女性进行因子 V 莱顿突变筛查。
