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Cause | Description | Commonness | Severity | Diagnostic Tests | Management |
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Factor V Leiden Mutation | Most common inherited thrombophilia, caused by resistance to activated protein C. | Common (5% of Caucasian population) | Moderate risk of venous thrombosis | Genetic testing for Factor V mutation; Activated Protein C resistance test. | Anticoagulation therapy in symptomatic or high-risk patients. |
Prothrombin G20210A Mutation | Genetic mutation leading to increased prothrombin levels and higher risk of clot formation. | Moderately common (2% of Caucasian population) | Moderate risk of venous thrombosis | Genetic testing for prothrombin mutation. | Anticoagulation therapy in patients with thromboembolism or high risk. |
Antithrombin Deficiency | Deficiency in antithrombin, which inhibits thrombin and factor Xa, leading to excessive clotting. | Rare (0.02% to 0.2% of population) | High risk of venous thrombosis | Functional assay for antithrombin activity. | Anticoagulation and antithrombin concentrates. |
Protein C Deficiency | Protein C, a natural anticoagulant, is deficient or dysfunctional, leading to higher risk of venous thrombosis. | Rare (0.2% of population) | Moderate to high risk of venous thrombosis | Protein C activity assay. | Anticoagulation therapy, typically heparin followed by warfarin or DOACs. |
Protein S Deficiency | Protein S works with Protein C to inhibit clot formation. Deficiency increases the risk of clotting. | Rare (0.03% to 0.13% of population) | Moderate to high risk of venous thrombosis | Protein S antigen or activity assay. | Anticoagulation therapy in symptomatic individuals or high-risk patients. |
Antiphospholipid Syndrome (APS) | An autoimmune disorder where antibodies target phospholipids, leading to arterial and venous thrombosis. | Rare (1%-5% in patients with thrombosis) | High risk of venous and arterial thrombosis | Antiphospholipid antibodies (lupus anticoagulant, anticardiolipin antibodies, anti-β2-glycoprotein I antibodies). | Long-term anticoagulation with warfarin or DOACs, aspirin for arterial thrombosis. |
Hyperhomocysteinemia | Elevated levels of homocysteine, promoting endothelial damage and increasing the risk of thrombosis. | Uncommon (5%-7% in general population) | Moderate risk of venous thrombosis | Plasma homocysteine levels. | Folate, vitamin B6, and B12 supplementation; anticoagulation for high-risk patients. |
Malignancy-associated Hypercoagulability | Certain cancers increase the risk of clot formation due to the release of procoagulant factors. | Varies (dependent on cancer type) | High risk of venous thrombosis | D-dimer, imaging for thrombosis, cancer workup. | Treat underlying malignancy, anticoagulation therapy (LMWH or DOACs preferred). |
Arterial thrombosis involving the coronary, cerebrovascular, and peripheral circulations is not generally linked to any of the primary hypercoagulable states. However, venous thrombosis can result in arterial occlusion by paradoxical embolism across a patent foramen ovale.