Cardiology patient pages. Prothrombin 20210 mutation (factor II mutation).

Abstract

Testing for the prothrombin 20210 mutation, also called factor II mutation, may have been offered by your doctor because you or someone in your family, has had (1) a blood clot in one of the deep veins of the body (also called deep vein thrombosis or DVT); (2) a blood clot that has traveled to the lung (called a pulmonary embolism or PE); (3) a blood clot in an unusual site (such as the mesenteric or cerebral sinus vein); (4) a heart attack or stroke at a young age; or (5) a history of recurrent pregnancy loss or stillbirth. A history like this in yourself or a family member may be indicative of an underlying thrombophilia. Thrombophilia is a term that describes a state in which the blood has an increased tendency to clot. People can have this increased tendency because they (1) have one or more inherited (genetic) risk factors, (2) have developed a chronic condition that puts them at increased risk, such as obesity, cancer, inflammatory bowel disease, or the persistence of certain antibodies (antiphospholipid antibodies), or (3) have a temporary condition that leads to an increased clotting tendency, such as recent surgery, trauma, a cast, prolonged immobility, pregnancy, or the use of oral contraceptives or hormone replacement therapy. The purpose of this Cardiology Patient Page is to provide more information about the prothrombin mutation, which is the second most common cause of hereditary thrombophilia. Normally, there is a fine balance in the body which ensures that there is not too much bleeding or blood clotting. If this balance is disrupted, a blood clot may occur. Throughout the course of a normal day, the blood vessels sustain many minor injuries of which you are not aware. In response, the body naturally triggers the “clotting cascade”—a sequence of events …