Martinelli I, Battaglioli T, Razzari C, Mannucci P M
Department of Internal Medicine and Medical Specialties, Bianchi Bonomi Haemophilia and Thrombosis Center, IRCCS Maggiore Hospital Policlinico, Mangiagalli and Regina Elena Foundation and University of Milan, Milan, Italy.
J Thromb Haemost. 2007 Jan;5(1):98-101. doi: 10.1111/j.1538-7836.2006.02291.x. Epub 2006 Oct 25.
Patients with factor (F) V Leiden or the prothrombin G20210A polymorphism are at increased risk of developing deep vein thrombosis (DVT). On the other hand, the risk of developing pulmonary embolism (PE) appears to be low in carriers of FV Leiden, perhaps because of a lower tendency to develop iliofemoral DVT than non-carriers. For prothrombin G20210A, data are scanty and controversial.
The clinical manifestations (isolated DVT, DVT and PE, and isolated PE), the extension of DVT, and the presence of transient risk factors were retrospectively investigated in 115 patients with heterozygous FV Leiden, 87 with prothrombin G20210A and 200 with no thrombophilia marker.
Isolated symptomatic PE was less prevalent in patients with FV Leiden (6%) than in those with prothrombin G20210A (21%) and no thrombophilia (23%) (P > 0.0001). The rate of distal DVT was higher in patients with no thrombophilia (16% vs. 7% for FV Leiden and 6% for prothrombin G20210A) (P = 0.02). No difference in the incidence of PE from distal and proximal DVT, the extension of proximal DVT and the type of transient risk factors for venous thromboembolism (VTE) was found in the three groups. Patients with prothrombin G20210A had a younger age at their first VTE (24 years, P < 0.0001) and a higher rate of DVT accompanying PE (P = 0.04) than those with FV Leiden or no thrombophilia.
Carriers of prothrombin G20210A, unlike those of FV Leiden, have an increased risk of developing isolated PE. This difference was not explained by a different rate of distal DVT, extension of proximal DVT, or distribution of transient risk factors in the two groups. Patients with prothrombin G20210A have more severe clinical manifestations than those with FV Leiden or no thrombophilia.
携带因子（F）V莱顿突变或凝血酶原G20210A多态性的患者发生深静脉血栓形成（DVT）的风险增加。另一方面，FV莱顿突变携带者发生肺栓塞（PE）的风险似乎较低，这可能是因为与非携带者相比，其发生髂股静脉DVT的倾向较低。对于凝血酶原G20210A，相关数据较少且存在争议。
回顾性研究了115例杂合子FV莱顿突变患者、87例凝血酶原G20210A突变患者和200例无血栓形成倾向标志物患者的临床表现（孤立性DVT、DVT合并PE和孤立性PE）、DVT的扩展情况以及短暂性危险因素的存在情况。
FV莱顿突变患者中孤立性症状性PE的发生率（6%）低于凝血酶原G20210A突变患者（21%）和无血栓形成倾向患者（23%）（P>0.0001）。无血栓形成倾向患者的远端DVT发生率较高（FV莱顿突变患者为7%，凝血酶原G20210A突变患者为6%，无血栓形成倾向患者为16%）（P=0.02）。三组在远端和近端DVT导致的PE发生率、近端DVT的扩展情况以及静脉血栓栓塞（VTE）的短暂性危险因素类型方面未发现差异。与FV莱顿突变患者或无血栓形成倾向患者相比，凝血酶原G20210A突变患者首次发生VTE的年龄更小（24岁，P<0.0001），DVT合并PE的发生率更高（P=0.04）。
与FV莱顿突变携带者不同，凝血酶原G20210A突变携带者发生孤立性PE的风险增加。两组在远端DVT发生率、近端DVT扩展情况或短暂性危险因素分布方面的差异无法解释这种不同。凝血酶原G20210A突变患者的临床表现比FV莱顿突变患者或无血栓形成倾向患者更为严重。
