Prothrombin G20210A mutation
- Kenneth A Bauer, MD
Kenneth A Bauer, MD
- Professor of Medicine
- Harvard Medical School
The prothrombin G20210A mutation is the second most common inherited thrombophilia after the factor V Leiden mutation. Challenging clinical issues include the decisions regarding when to test for the mutation and how to manage individuals with the mutation, either in the setting of venous thromboembolism (VTE) or as an incidental finding.
This topic reviews the diagnosis of prothrombin G20210A and the management of individuals who carry the mutation.
Separate topic reviews discuss other thrombophilias and the role of thrombophilia screening in various populations:
●Factor V Leiden (FVL) mutation – (See "Factor V Leiden and activated protein C resistance".)
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- Eikelboom JW, Baker RI, Parsons R, et al. No association between the 20210 G/A prothrombin gene mutation and premature coronary artery disease. Thromb Haemost 1998; 80:878.
- Bradley LA, Palomaki GE, Bienstock J, et al. Can Factor V Leiden and prothrombin G20210A testing in women with recurrent pregnancy loss result in improved pregnancy outcomes?: Results from a targeted evidence-based review. Genet Med 2012; 14:39.
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- Role of prothrombin in coagulation
- Prothrombin G20210A mutation
- Other prothrombin gene variants
- CLINICAL FEATURES
- Venous thromboembolism
- - Risk of VTE
- - Sites of thrombosis
- - Recurrence risk
- Arterial thrombosis
- Obstetric issues
- Mutation testing
- Differential diagnosis
- Patients with VTE
- Asymptomatic individuals
- Testing of first degree relatives
- SUMMARY AND RECOMMENDATIONS