prothrombin gene
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Introduction
A mutation in the 3' untranslated region of the gene is associated with elevated plasma levels of prothrombin & increased rates of venous thromboembolism, including:
- deep vein thrombosis
- portal vein thrombosis
- cerebral vein thrombosis The mutation is also associated with acute myocardial infarction in women who have other risk factors for arterial vascular disease (smoking, hyperlipidemia, hypertension).
Epidemiology
- present in 2% of normal individuals
- 6% of patients with 1st deep vein thrombosis (DVT)
- 15-18% of patients with recurrent thromboembolism
- 2nd most common cause of hypercoagulability, 20% of cases
- 40% also harbor factor V Leiden mutation