Description

• 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

Epidemiology

• 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

Prevalence
3–5% of the population

Risk Factors

• 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).

Pregnancy Considerations
Increased thrombotic risk in patients with prothrombin 20210

Genetics
Autosomal dominant

General Prevention

Patients with prothrombin 20210 without thrombosis do not require prophylactic treatment with full anticoagulation (2)[A].

Pathophysiology

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

Etiology

Gene mutation

Commonly Associated Conditions

Venous thromboembolism