Prothrombin 20210 (Mutation)
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- Prothrombin 20210 mutation is the 2nd most common inherited risk factor for venous thromboembolism after factor V Leiden mutation.
- Polymorphism (replacement of G by A) in the 3′ untranslated end of the prothrombin gene causes increased translation, resulting in elevated synthesis and secretion of prothrombin. This leads to a 2.8-fold increased risk for venous thrombosis.
- System(s) affected: Cardiovascular; Hemic/Lymphatic/Immunologic; Nervous; Pulmonary; Reproductive
- Synonym(s): Prothrombin G20210A mutation; Prothrombin G20210 gene polymorphism; Prothrombin gene mutation; FII A20210 mutation
- Found largely in Caucasian populations. Found in 2–5% of European and Middle Eastern populations, but rarely in nonwhites. Found in 4–8% of persons with venous thromboembolism and in up to 18% of patients with recurrent thrombosis.
- Predominant age: Mean age of 1st thrombosis is in the 2nd decade.
- Predominant gender: Male = Female
3–5% of the population
- Oral contraceptives, pregnancy, and the use of hormone replacement therapy increase the risk of venous thrombosis in patients with prothrombin 20210 (1).
- Patients with prothrombin 20210 and another prothrombotic state, such as factor V Leiden, have increased rates of thrombosis (1).
Increased thrombotic risk in patients with prothrombin 20210
Replacement of G for A in the 3′ untranslated region of the prothrombin gene resulting in relatively higher plasma prothrombin activity, leading to increased risk for venous thrombosis
Commonly Associated Conditions