Thrombophilia, Restless Leg Syndrome (RLS), and Factor V: Understanding the Connection
Thrombophilia refers to an increased tendency to form abnormal blood clots, which can lead to deep venous thrombosis (DVT) and venous thromboembolism (VTE) . Several genetic causes of thrombophilia include Factor V Leiden mutation , antithrombin III deficiency , protein C and protein S deficiencies , histidine-rich glycoprotein deficiency , and prothrombin-related thrombophilia . These genetic abnormalities disrupt normal clot regulation, increasing the risk of clotting disorders. Key Genetic Causes of Thrombophilia Factor V Leiden Mutation : This is the most common cause of inherited thrombophilia, making Factor V resistant to inactivation by activated protein C (APC), resulting in increased clot formation. Antithrombin III Deficiency : Antithrombin III helps regulate clotting by inhibiting enzymes like thrombin. A deficiency reduces this inhibition, raising the risk of clot formation. Protein C and Protein S Deficiencies : These proteins work together to deactivate Factors Va and VI...