Related Experiment Videos
Venous thrombosis and multiple prothrombotic gene defects. Case 5
C Mengis1, F Demarmels Biasiutti
1Central Haematology Laboratory, Inselspital University Hospital, 3010 Bern, Switzerland.
Hamostaseologie
|August 19, 2003
Summary
A woman with combined thrombophilia (prothrombin G20210A and Factor V Leiden mutation) experienced her first venous thrombosis during pregnancy. This highlights venous thrombosis as a multifactorial disease influenced by genetic and acquired factors.
Area of Science:
- Hematology
- Genetics
Background:
- Venous thromboembolism (VTE) is a complex condition influenced by genetic and environmental factors.
- Thrombophilia, an increased tendency to form blood clots, can be inherited or acquired.
- Combined genetic mutations can significantly elevate VTE risk.
Observation:
- A 30-year-old woman presented with a history of postpartum venous thrombosis.
- She possessed homozygous prothrombin G20210A mutation and heterozygous Factor V Leiden mutation.
- Her first VTE occurred at age 29 during the postpartum period.
Findings:
- Despite a high-risk thrombophilia profile, VTE onset was delayed until pregnancy.
- This case supports the multifactorial nature of venous thrombosis.
- Genetic predisposition interacts with acquired risk factors.
Implications:
- Complete thrombophilia screening is crucial for identifying individuals at risk.
- Understanding the interplay of genetic and acquired factors is vital for VTE prevention.
- Pregnancy represents a significant acquired risk factor in women with thrombophilia.