What is the Prothrombin Mutation?
The prothrombin mutation is the second most common genetic cause of venous thrombosis, accounting for 6-8% of venous thrombosis cases, and is also involved in certain arterial thrombotic conditions. This mutation is found in 1-3% of the U.S. population. The prothrombin mutation causes elevated levels of prothrombin in the blood. Prothrombin is involved in blood clotting; therefore elevated levels of prothrombin cause excessive clotting of the blood (thrombosis). What are the Most Common Features of Factor V Leiden and Prothrombin Mutations? Individuals with factor V or prothrombin mutations have a greater chance for experiencing venous thrombosis, peripheral vascular disease, stroke, recurrent miscarriages, pulmonary embolism (blood clot within an artery of the lung), and heart attack. Presence of the factor V mutation increases the risk for venous thrombosis 7-fold in heterozygotes (people carrying one copy of the mutation) and 80-fold in homozygotes (people carrying 2 copies of the m