Thrombophilia

Thrombophilia is a heightened tendency to develop blood clots because of inherited or acquired abnormalities in the clotting system. It can increase the risk of venous or, less commonly, arterial thrombosis.

Coagulation: Coagulation is the sequence of reactions that forms a blood clot to limit bleeding. Thrombophilia often reflects excessive activation or inadequate restraint of this clot-forming process.
Venous thromboembolism: Venous thromboembolism is the formation of a venous clot and its possible movement to another site, especially the lungs. It is the main clinical outcome associated with many thrombophilias.
Thrombophilia testing: Thrombophilia testing uses laboratory or genetic tests to investigate inherited or acquired contributors to abnormal clotting. Its value depends on the clinical setting and whether results affect care.
Hemophilia: Hemophilia is an inherited bleeding disorder caused by deficiency or dysfunction of clotting factor VIII or IX. It impairs clot formation, the opposite tendency from thrombophilia.
Factor V Leiden: Factor V Leiden is an inherited variant of the F5 gene that makes factor V less susceptible to inactivation by activated protein C. This common inherited cause of thrombophilia weakens a key anticoagulant control.
Deep vein thrombosis: Deep vein thrombosis is a blood clot in a deep vein, usually in the leg or pelvis. It is a frequent first manifestation of inherited or acquired clotting tendency.
D-dimer: D-dimer is a fibrin breakdown product measured in blood as part of evaluating suspected thrombosis. It helps assess an acute clot but does not diagnose an inherited thrombophilia.
Thrombocytopenia: Thrombocytopenia is a lower-than-normal platelet count in the blood. A low platelet count concerns platelet number and bleeding risk, not necessarily an inherited tendency to clot.
Prothrombin G20210A mutation: The prothrombin G20210A mutation is an inherited F2 gene variant associated with increased prothrombin levels. Higher prothrombin can favor clot formation in carriers.
Pulmonary embolism: Pulmonary embolism occurs when material, usually a blood clot, blocks an artery in the lungs. A clot linked to thrombophilia may travel from a deep vein to the pulmonary arteries.

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