Venous Thrombosis with Both Heterozygous Factor V Leiden (R507Q) and Factor II (G20210A) Mutations

Feriyl Bhaijee; Brenda Jordan; Dominique J. Pepper; Rodney Leacock; William A. Rock

doi:10.29074/ascls.25.4.199

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Feriyl Bhaijee, MD
1. Dept. of Pathology, University of Mississippi Medical Center, Jackson MS
Brenda Jordan, MD
1. Dept. of Pathology, University of Mississippi Medical Center, Jackson MS
Dominique J. Pepper, MD
1. Dept. of Medicine, University of Mississippi Medical Center, Jackson MS
Rodney Leacock, MD
1. Dept. of Neurology, University of Mississippi Medical Center, Jackson MS
William A. Rock Jr., MD⇑
1. Dept. of Pathology, University of Mississippi Medical Center, Jackson MS

Address for Correspondence: William A. Rock Jr., MD, Dept. of Pathology, University of Mississippi Medical Center, 2500 North State Street, Jackson MS 39216, 601 853-4424, wfcc42{at}gmail.com

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.

ABBREVIATIONS

EDTA–ethylenediaminetetraacetic acid, VTE–venous thromboembolism, APC–activated protein C,