Disorders of coagulation or thrombosis - thrombophilia
Description
- Inherited or acquired tendency to venous (and in APS, arterial) thrombosis
- *The central clinical point: a positive result rarely changes the acute treatment, and for most inherited defects it does not change duration either*
- Duration is decided by provoked vs unprovoked and by bleeding risk - not by a gene
- Antiphospholipid syndrome is the exception that does change management
Inherited
| Prevalence among inherited thrombophilias | Population frequency | |
|---|---|---|
| Factor V Leiden / APC resistance | 20-50% | 1-7% of Caucasians |
| Prothrombin G20210A | 3-5% | ~2% |
| Protein C deficiency | ~5% | ~0.3% |
| Protein S deficiency | ~5% | ~0.1% |
| Antithrombin deficiency | <5% | ~0.02% - rarest but strongest |
| Dysfibrinogenaemia | Rare |
- Roughly half of "inherited thrombophilias" are found after an event that was actually provoked by immobility, surgery or pregnancy - the result is then an incidental finding, not the cause
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