Factor V(Leiden) is the most common abnormality detected in patients examined because of hereditary thrombophilia. The most widely used clot-based screening test is based on the activated partial thromboplastin (aPTT) time. This test has a low sensitivity. A comparison of the aPTT-based test with a Russell viper venom time test (RVVT) was performed in matched samples. All samples were analyzed by polymerase chain reaction (PCR) for the factor V(Leiden) defect. We studied 139 samples, of which 109 were PCR-negative; 30 were PCR-positive. Using the manufacturer's suggested threshold ratio of 2, the aPTT test showed a sensitivity of 0.43, a specificity of 0.86, and a positive predictive value (PPV) of 0.97. The RVVT test had a sensitivity of 1.0, a specificity of 0.95, and a PPV of 0.91. Segregation of a subpopulation of this study population into ABO group O vs non-group O showed an effect of ABO group on the aPTT test but not on the RVVT test, consistent with an influence of factor VIII clotting (factor VIII:C) on the aPTT test. The RVVT test seems superior to the unmodified aPTT test as a screening test for factor V(Leiden).

译文

因子V(Leiden) 是由于遗传性血栓形成而在检查的患者中最常见的异常。最广泛使用的基于凝块的筛查测试是基于活化的部分凝血活酶 (aPTT) 时间。该测试灵敏度低。在匹配的样品中进行了基于aPTT的测试与Russell viper毒液时间测试 (RVVT) 的比较。所有样品均通过聚合酶链反应 (PCR) 分析因子V (莱顿) 缺陷。我们研究了139份样品,其中109份为PCR阴性; 30份为PCR阳性。使用制造商建议的阈值比率2,aPTT测试显示出0.43的敏感性,0.86的特异性和0.97的阳性预测值 (PPV)。RVVT测试的敏感性为1.0,特异性为0.95,PPV为0.91。将该研究人群的亚群分为ABO组O和非O组,显示ABO组对aPTT测试有影响,但对RVVT测试没有影响,这与因子VIII凝血 (因子VIII:C) 的影响一致aPTT测试。作为因子V(Leiden) 的筛选测试,RVVT测试似乎优于未修改的aPTT测试。

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