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Blood coagulation, factor V Leiden and 20210G-A

Thrombophilias are hereditary and/or acquired pathologies that predispose individuals to suffering thrombosis or blood clots. The term hereditary thrombophilia has been generally applied to pathologies in which a genetic mutation affects the amount or function of a protein in the coagulation system. The most studied mutations include factor V Leiden or rs6025 mutation and prothrombin gene 20210A-G mutation or PGM, and those altering the antithrombin 3 (AT3 or SERPINC1), protein C (PROC) and protein S (PROS1) genes.

Hypercoagulability or thrombophilias are multifactorial conditions that can have a different etiology/cause. In addition to the potential genetic contribution, several factors may be considered to properly assess the individual thrombophilia risk. Acquired thrombophilia can be due to specific diseases as e.g., myeloproliferative neoplasms and deficiencies in natural coagulants. Certain drug treatments (oral contraceptives, hormone treatments and chemotherapy) and other factors as smoking, obesity and pregnancy may also increase the risk of thrombosis and should be taken into consideration.

People more prone to blood hypercoagulation are at increased risk of developing deep vein thrombosis (DVT), which is characterized by a tendency to clot formation in leg veins. Although clots are mainly formed in legs, they can also occur in other body parts as the lungs, leading to pulmonary embolism. Vein thrombosis is the main term that includes DVT and pulmonary embolism and its incidence is estimated at 1-2 per 1000 individuals every year, being the third most common cardiovascular disease.


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