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Risk factors for clinical manifestations in carriers of Factor V Leiden and prothrombin gene mutations

DeSancho, Maria Teresa; Berlus, Nickisha; Christos, Paul J; Rand, Jacob

Blood Coagulation & Fibrinolysis: January 2010 - Volume 21 - Issue 1 - p 11–15
doi: 10.1097/MBC.0b013e32832d6ce7
Original Articles

Carriers of Factor V Leiden and prothrombin G20210A gene mutations have an increased risk of developing thromboembolic events and adverse outcomes of pregnancy. The objective of the present study was to identify risk factors which may predispose carriers of Factor V Leiden and/or prothrombin G20210A gene mutations to develop thromboembolic events and adverse outcomes of pregnancy. A retrospective case–control study of 217 carriers of Factor V Leiden and/or prothrombin G20210A gene mutations at two tertiary centers between January 2000 and December 2006. Symptomatic carriers (cases) were compared with asymptomatic carriers (controls) for the following risk factors: environmental, cardiovascular, family history of thrombosis, and presence of other thrombophilias. For female carriers, we included the use of female hormones, pregnancy, and the postpartum period. Of the 217 carriers, there were 155 (71%) cases and 62 (29%) controls. Of the 155 cases, 90 (58%) had venous thrombosis and 26 (17%) arterial thrombosis. Among the 123 symptomatic female carriers, 55 (45%) had recurrent pregnancy losses and nine (7%) other adverse outcomes of pregnancy. The postoperative state and the presence of antiphospholipid antibodies were risk factors for thromboembolic events and adverse outcomes of pregnancy in 10 (6%) and 22 (13%) cases, respectively. The presence of antiphospholipid antibodies in symptomatic carriers increased the risk of developing thromboembolic events 4.4-fold. The postoperative state and the presence of antiphospholipid antibodies were significant risk factors for thromboembolic events and adverse outcomes of pregnancy among Factor V Leiden and/or prothrombin G20210A gene mutation carriers. Testing for the presence of antiphospholipid antibodies may be warranted in Factor V Leiden and/or prothrombin G20210A gene mutation carriers who develop these adverse clinical manifestations.

aWeill Medical College of Cornell University, New York, USA

bRobert Wood Johnson Medical School, University of Medicine and Dentistry of New Jersey, New Brunswick, New Jersey, USA

cDivision of Biostatistics and Epidemiology, Department of Public Health, Weill Medical College of Cornell University, USA

dAlbert Einstein College of Medicine, Bronx, New York, USA

Received 18 December, 2008

Revised 20 April, 2009

Accepted 23 April, 2009

Correspondence to Maria Teresa DeSancho, MD, Division of Hematology-Medical Oncology, Department of Medicine, New York Presbyterian Hospital, Weill Medical College of Cornell University, 525 East 68th Street, Suite ST-341, New York, NY 10021, USA Tel: +1 212 746 2927; fax: +1 212 746 8869; e-mail: mtd2002@med.cornell.edu

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