Different outcomes in patients with prothrombin gene variant
Author Information
Author(s): Di Micco Pierpaolo, Di Fiore Rosanna, Niglio Alferio, Quaranta Sandro, Angiolillo Antonella, Cardillo Giuseppe, Castaldo Giuseppe
Primary Institution: Department of Internal Medicine, Fatebenefratelli Hospital of Naples, Naples, Italy
Hypothesis
The clinical expression of the prothrombin G20210A variant depends on additional risk factors.
Conclusion
Homozygotes for the G20210A variant are at risk for both arterial and venous thrombotic events, and chronic liver disease may modulate this risk.
Supporting Evidence
- Two cases experienced deep vein thrombosis during oral contraceptive use.
- Two cases had arterial thrombotic events without other risk factors.
- Two cases with the same genotype did not experience any thrombotic events.
Takeaway
Some people with a specific gene variant can have serious blood clots, but other health issues can change how likely that is to happen.
Methodology
Case reports of six homozygotes for the G20210A variant were analyzed for clinical outcomes and risk factors.
Potential Biases
Potential bias in case selection and reporting.
Limitations
The study is based on a small sample size and may not be generalizable.
Participant Demographics
Six homozygotes for the G20210A variant, including both males and females aged 27 to 60.
Digital Object Identifier (DOI)
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