From the Guidelines
Thrombophilia is a condition characterized by an increased tendency of the blood to form clots abnormally, which can be inherited or acquired, and requires careful management to prevent complications such as deep vein thrombosis and pulmonary embolism. This condition can be caused by various factors, including genetic mutations, such as Factor V Leiden mutation, prothrombin gene mutation, protein C deficiency, protein S deficiency, and antithrombin deficiency, as well as acquired conditions like antiphospholipid syndrome, cancer, pregnancy, hormone therapy, or prolonged immobility 1. People with thrombophilia have a higher risk of developing clotting events, and treatment typically involves anticoagulant medications like warfarin, heparin, or direct oral anticoagulants (DOACs) such as apixaban or rivaroxaban.
Key Points to Consider
- The management of thrombophilia should prioritize the prevention of clotting events, and the choice of anticoagulant therapy should be individualized based on the type of thrombophilia and the patient's medical history 1.
- The duration of treatment depends on the type of thrombophilia and history of clotting events, with some patients requiring lifelong anticoagulation, while others may need it only during high-risk periods.
- Thrombophilia works by disrupting the normal balance between clot formation and breakdown, either by increasing clotting factors, decreasing natural anticoagulants, or interfering with the body's clot dissolution mechanisms.
Current Recommendations
- Patients with ischemic stroke or TIA with an established inherited thrombophilia should be evaluated for deep vein thrombosis, which is an indication for short- or long-term anticoagulant therapy, depending on the clinical and hematologic circumstances 1.
- The use of DOACs in patients with antiphospholipid syndrome is still uncertain, and further research is needed to clarify their role in reducing the risk of stroke in this population 1.
From the Research
Definition of Thrombophilia
- Thrombophilia refers to a condition characterized by an increased tendency to form blood clots, which can lead to venous thromboembolism (VTE) 2.
- It can be caused by hereditary or acquired factors, including genetic mutations, antiphospholipid antibody syndrome, and hyperhomocysteinemia 2.
Types of Thrombophilia
- Hereditary thrombophilia: caused by genetic mutations, such as factor V Leiden, prothrombin gene mutation, and antithrombin deficiency 3, 2.
- Acquired thrombophilia: caused by factors such as antiphospholipid antibody syndrome, hyperhomocysteinemia, and cancer 2.
Risk Factors and Prevention
- Thrombophilia increases the risk of recurrent VTE, especially in patients with a history of VTE 3, 2.
- Prevention strategies, such as anticoagulant therapy, should be tailored to each patient's individual risk factors and situational risks 2.
- Warfarin and direct oral anticoagulants (DOACs) are commonly used for the treatment and prevention of VTE in patients with thrombophilia 4, 5, 6.
Treatment and Management
- Warfarin dose requirement can vary significantly in patients with severe thrombosis and/or thrombophilia, and genetic dosing algorithms may underestimate the required dose 4.
- DOACs, such as apixaban and rivaroxaban, have been shown to be effective in preventing recurrent VTE in patients with thrombophilia 5, 6.
- The choice of anticoagulant therapy should be based on individual patient characteristics, such as cancer status, and the presence of other risk factors 5, 6.