RT Journal Article
SR Electronic
T1 Venous Thrombosis with Both Heterozygous Factor V Leiden (R507Q) and Factor II (G20210A) Mutations
JF American Society for Clinical Laboratory Science
JO Clin Lab Sci
FD American Society of Chemistry and Laboratory Science
SP 199
OP 205
DO 10.29074/ascls.25.4.199
VO 25
IS 4
A1 Feriyl Bhaijee
A1 Brenda Jordan
A1 Dominique J. Pepper
A1 Rodney Leacock
A1 William A. Rock, Jr.
YR 2012
UL http://hwmaint.clsjournal.ascls.org/content/25/4/199.abstract
AB 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.ABBREVIATIONSEDTA–ethylenediaminetetraacetic acid, VTE–venous thromboembolism, APC–activated protein C,