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Inherited factors in thrombosis
1Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, University of Milan, Italy.
Blood Reviews
|March 1, 1988
Summary
Inherited thrombophilia, affecting 1 in 7500 people, increases the risk of blood clots due to impaired anticoagulant and fibrinolytic systems. This review covers genetic causes, diagnosis, and management strategies for these conditions.
Area of Science:
- Hematology
- Genetics
- Internal Medicine
Background:
- Inherited defects in anticoagulant and fibrinolytic systems predispose individuals to thromboembolism.
- Inherited thrombophilia is more prevalent than inherited bleeding disorders.
- Common causes include deficiencies in antithrombin III, protein C, protein S, and abnormal fibrinogens.
Purpose of the Study:
- To review the pathophysiology, genetics, and clinical aspects of inherited thrombotic disorders.
- To outline laboratory diagnostic approaches.
- To provide an approach to prophylaxis and therapy.
Main Methods:
- Literature review of inherited thrombophilia.
- Analysis of genetic and clinical aspects.
- Discussion of diagnostic methods and therapeutic strategies.
Main Results:
- Identified frequent inherited causes: low antithrombin III, protein C, protein S, and abnormal fibrinogens.
- Noted less frequent causes: low heparin cofactor II, plasminogen; high plasminogen activator inhibitor, histidine-rich glycoprotein.
- Highlighted the higher prevalence of inherited thrombophilia compared to bleeding disorders.
Conclusions:
- Understanding inherited thrombophilia is crucial for managing thromboembolic risk.
- Comprehensive evaluation including genetic and laboratory diagnosis is essential.
- A tailored approach to prophylaxis and therapy can mitigate risks associated with these disorders.