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Laboratory thrombophilias and venous thromboembolism

Cardiovascular Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA

Samuel Z Goldhaber

Cardiovascular Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA, sgoldhaber{at}partners.org

Inherited abnormalities of coagulation are increasingly recognized in patients with venous thromboembolism. Common causes of hypercoagulability, also known as thrombophilia, include factor V Leiden, the prothrombin gene mutation, hyperhomocysteinemia, and antiphospholipid antibodies. Thrombophilia should be suspected in patients who develop idiopathic venous thromboembolism at a young age, recurrent thrombosis, thromboses at unusual sites, recurrent unexplained pregnancy loss, or if there is a family history of thrombotic disorders. The most cost-effective approach is to initially screen for factor V Leiden, the prothrombin gene mutation, hyperhomocysteinemia, and antiphospholipid antibodies because these are the most common defects causing thrombophilia. Long-term anticoagulation is controversial but should be considered if unprovoked venous thromboembolism recurs.

Key Words: genetic • hypercoagulability • inherited • thrombophilia • venous thromboembolism

Vascular Medicine, Vol. 7, No. 2, 93-102 (2002)
DOI: 10.1191/1358863x02vm426ra


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