title: Venous thrombosis with both heterozygous factor V Leiden (R507Q) and factor II (G20210A) mutations.
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.
authors: Dept. of Pathology, University of Mississippi Medical Center, Jackson, MS 39216, USA.
authors: Feriyl
authors: F
authors: Bhaijee
authors: Brenda
authors: B
authors: Jordan
authors: Dominique J
authors: DJ
authors: Pepper
authors: Rodney
authors: R
authors: Leacock
authors: William A
authors: WA
authors: Rock
mesh_terms: D005165:Factor V / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin