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Published on: July 16, 2018
Thrombophilia, risk factors and prevention
Elena Campello1, Luca Spiezia1, Angelo Adamo1
1a Haemorrhagic and Thrombotic Diseases Unit, Department of Medicine (DIMED) , Padova University Hospital , Padova , Italy.
Understanding inherited thrombophilia, a prothrombotic condition, is crucial for preventing venous thromboembolism (VTE). Personalized prevention strategies considering all risk factors improve outcomes for carriers.
Area of Science:
- Hematology
- Genetics
- Vascular Medicine
Background:
- Hypercoagulability predisposes individuals to venous thromboembolism (VTE).
- Knowledge of hereditary and acquired thrombophilia has significantly advanced since antithrombin deficiency was first described.
- Thrombophilia encompasses inherited and acquired conditions increasing blood clot risk.
Purpose of the Study:
- To summarize main causes of hereditary and acquired thrombophilia.
- To discuss new prothrombotic mutations and common acquired prothrombotic states.
- To provide evidence-based suggestions for thromboprophylaxis in hereditary thrombophilia carriers.
Main Methods:
- Review of current literature on hereditary and acquired thrombophilia.
- Summary of established and newly discovered prothrombotic mutations.
- Discussion of antiphospholipid antibody syndrome and hyperhomocysteinemia.
- Analysis of procoagulant factors and natural anticoagulant levels.
Main Results:
- Hereditary thrombophilia causes include newly discovered mutations.
- Acquired thrombophilia includes antiphospholipid antibody syndrome and hyperhomocysteinemia.
- Prothrombotic states involve increased procoagulant factors or decreased natural anticoagulants.
Conclusions:
- Thromboprophylaxis for hereditary thrombophilia carriers requires individualized assessment of coexisting risk factors.
- Prevention strategies must be tailored to patient-specific and situational risks.
- Identifying carriership status aids in counseling relatives regarding screening and prophylaxis.
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