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Factor V gene mutation is a risk factor for cerebral venous thrombosis
I Martinelli1, G Landi, G Merati
1A Blanchi Bonomi Hemophllia and Thrombosis Center, Milano, Italy.
Thrombosis and Haemostasis
|March 1, 1996
Summary
Activated protein C (APC) resistance is linked to cerebral venous thrombosis (CVT). This common coagulation defect significantly increases the risk of developing CVT, highlighting its importance in thrombotic events.
Area of Science:
- Neurology
- Hematology
- Genetics
Background:
- Cerebral venous thrombosis (CVT) is a rare but serious condition.
- Coagulation defects are potential risk factors for CVT.
- The role of activated protein C (APC) resistance in CVT requires further investigation.
Purpose of the Study:
- To assess the association between coagulation defects and cerebral venous thrombosis (CVT).
- To determine the prevalence of APC resistance in patients with CVT compared to healthy controls.
Main Methods:
- A case-control study involving 25 CVT patients and 75 healthy individuals.
- DNA analysis was used to identify the factor V gene mutation associated with APC resistance.
- Exclusion criteria included autoimmune, neoplastic, or infectious diseases.
Main Results:
- The prevalence of APC resistance was 20% in CVT patients versus 2.7% in controls, a statistically significant difference (p=0.01).
- The odds ratio for APC resistance in CVT was 9.1.
- No patients had protein C or S deficiency; one patient had APC resistance with antithrombin deficiency.
Conclusions:
- Activated protein C (APC) resistance is the most frequent coagulation abnormality found in patients with cerebral venous thrombosis (CVT).
- APC resistance is a significant risk factor for developing CVT.