thrombophilia
- this is functionally the same as e.g. young stroke stuff tbh
clinical presentation
- weird and wonderful clots
- miscarriage
factor V Leiden mutation
| most common inherited thrombophilia | |
|---|---|
| Etiology | ...what do you think Heterozygotes have 5-fold ↑ risk of VTE |
| Epidemiology | Autosomal dominant inheritance Quoted as 20-40% of patients with VTE have Factor V Leiden |
| Pathogenesis | activated protein C resistance (so factor V less susceptible to breakdown by protein C) |
| Investigations: | Diagnostic: APC clotting time ↑ activated factor V, APTT prolonged |
| Management: |