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Update on selected inherited venous thrombotic disorders
1Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA.
American Journal of Hematology
|January 5, 2002
Summary
Inherited thrombophilias increase the risk of blood clots, particularly in veins. Identifying genetic factors like factor V Leiden and prothrombin gene mutations aids in diagnosing these conditions.
Area of Science:
- Hematology
- Genetics
- Internal Medicine
Background:
- Inherited thrombophilias are genetic conditions predisposing individuals to thrombotic events.
- Most inherited thrombotic disorders are linked to venous thromboembolism, not arterial thrombosis.
- Identifying genetic and environmental risk factors is crucial for thrombosis patients.
Purpose of the Study:
- To review the clinical and laboratory aspects of common inherited venous thrombotic disorders.
- To highlight recent advances in identifying the etiologies of inherited thrombosis.
- To discuss the diagnostic capabilities for inherited thrombotic conditions.
Main Methods:
- Review of literature on inherited thrombophilias.
- Focus on clinical and laboratory findings.
- Discussion of common genetic variants and deficiencies.
Main Results:
- Common inherited thrombotic disorders include activated protein C resistance (factor V Leiden), hyperhomocysteinemia, prothrombin gene variant G20210A, elevated factor VIII, and deficiencies of thrombomodulin, protein C, protein S, and antithrombin.
- Laboratory diagnosis is possible in approximately 70% of patients evaluated for inherited thrombosis.
- Less common disorders involve elevated factors IX, X, and XI.
Conclusions:
- Recognition of inherited thrombophilias allows for laboratory diagnosis in a significant portion of patients.
- Understanding these conditions is vital for managing and preventing thrombotic events.
- Further research continues to elucidate the genetic underpinnings of thrombosis.
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