From the Research
To diagnose familial hypercoagulability, a comprehensive panel of laboratory tests is recommended, including a complete blood count, prothrombin time, activated partial thromboplastin time, and fibrinogen level, as well as specific tests for inherited thrombophilias such as Factor V Leiden mutation and Protein C and Protein S activity levels, as supported by the most recent study 1.
Initial Testing
Initial testing should include:
- Complete blood count
- Prothrombin time
- Activated partial thromboplastin time
- Fibrinogen level These tests assess baseline coagulation status and can help identify potential abnormalities.
Specific Tests for Inherited Thrombophilias
Specific tests for inherited thrombophilias include:
- Factor V Leiden mutation
- Prothrombin G20210A mutation
- Protein C and Protein S activity levels
- Antithrombin III activity
- Testing for hyperhomocysteinemia These tests can help identify specific genetic mutations or deficiencies that may contribute to hypercoagulability.
Additional Tests
Additional tests may include:
- Lupus anticoagulant
- Anticardiolipin antibodies
- Beta-2 glycoprotein antibodies These tests can help rule out antiphospholipid syndrome and other acquired causes of hypercoagulability.
Test Selection and Timing
The selection of tests should be guided by the patient's clinical presentation, family history, and the site of thrombosis, as different thrombophilias may predispose to different types of clots 2. These tests should ideally be performed when the patient is not on anticoagulation therapy and at least 4-6 weeks after an acute thrombotic event for accurate results.
Less Common Disorders
Testing for less common disorders like dysfibrinogenemia, Factor VIII elevation, and JAK2 mutation may be warranted in certain cases, as supported by earlier studies 3, 4, 5. However, the most recent study 1 provides the most up-to-date guidance on diagnostic testing for familial hypercoagulability.