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Factor V Leiden Mutation is the most common inherited thrombophilia, caused by a genetic change in the F5 gene. This mutation makes clotting factor V resistant to inactivation by activated protein C, resulting in increased blood clot formation. While many people with the mutation never experience symptoms, others have a higher risk of developing abnormal blood clots, especially in the deep veins of the legs (deep vein thrombosis) or the lungs (pulmonary embolism). The risk is greater in individuals who inherit the mutation from both parents or have additional risk factors such as pregnancy, surgery, prolonged immobility, obesity, smoking, or use of estrogen-containing medications.

Symptoms usually occur only when a clot develops and may include leg pain, swelling, redness, warmth, chest pain, or sudden shortness of breath. Diagnosis is confirmed through blood tests that assess activated protein C resistance and genetic testing for the Factor V Leiden mutation. Treatment depends on the presence and severity of blood clots and may include anticoagulant medications to prevent further clot formation. Preventive measures, such as maintaining an active lifestyle, staying hydrated, avoiding prolonged inactivity, and managing other clotting risks, can significantly reduce complications and improve long-term health outcomes.