Prothrombin (Factor II) 20210 Gene Mutation

By Joel L. Moake, MD, Rice University;Baylor College of Medicine

NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version

Thrombotic Disorders
Overview of Thrombotic Disorders
Antiphospholipid Antibody Syndrome (APS)
Antithrombin Deficiency
Hyperhomocysteinemia
Factor V Resistance to Activated Protein C (APC)
Protein C Deficiency
Protein S Deficiency
Protein Z Deficiency
Prothrombin (Factor II) 20210 Gene Mutation

A genetic mutation causes increased serum levels of prothrombin (factor II), predisposing to venous thrombosis.

Prothrombin (factor II) is a vitamin K-dependent precursor of thrombin, the end-product of the coagulation cascade. A mutation of the prothrombin 20210 gene results in increased plasma prothrombin levels (with potentially increased thrombin generation) and increases the risk of venous thromboembolism.

The prevalence of the mutation ranges from < 1% to 6.5%, depending on the population studied.

Pathways in blood coagulation.

The diagnosis is made by genetic analysis of the prothrombin 20210 gene using blood samples.

Treatment

Anticoagulation

Anticoagulation with heparin or low molecular weight heparin, followed by warfarin, is used for venous thrombosis, or for prophylaxis in patients at increased thrombotic risk (eg, by immobilization, severe injury, or surgery).

It is not known if the newer oral anticoagulants that inhibit either thrombin (dabigatran) or factor Xa (eg, rivaroxaban, apixaban) can be used in place of other anticoagulants for this disorder.

Last full review/revision September 2016 by Joel L. Moake, MD