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  • Title: Venous thrombosis with both heterozygous factor V Leiden (R507Q) and factor II (G20210A) mutations.
    Author: Bhaijee F, Jordan B, Pepper DJ, Leacock R, Rock WA.
    Journal: Clin Lab Sci; 2012; 25(4):199-205. PubMed ID: 23330508.
    Abstract:
    Both hereditary and acquired factors increase the risk of venous thromboembolism, thus the clinical management of affected patients involves evaluation of genetic factors that predispose to hypercoagulability. Factor V Leiden (R507Q) and factor II (prothrombin) mutation (G20210A) are the two most common inherited hypercoagulability disorders among populations of European origin. Both factor V Leiden and factor II mutation (G20210A) represent gain-of-function mutations: factor V Leiden causes resistance to activated protein C, and factor II mutation (G20210A) results in higher levels of plasma prothrombin. Herein, we present an uncommon case of combined factor V Leiden mutation (R507Q) and factor II mutation (G20210A), and discuss the prevalence and features of each entity, as well as their role in the clinical management of affected patients.
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