Examples of genetic mutations associated with inherited thrombophilia
| Established | Probable | Possible |
|---|---|---|
| Approximate prevalence in unselected patients with deep vein thrombosis is shown in brackets where this is known. | ||
| ACE, angiotensin converting enzyme; TFPI, tissue factor pathway inhibitor. | ||
| Antithrombin (1%) | Mutations causing raised factor VIII (25%) | Other mutations causing APC resistance |
| Protein C (3%) | Mutations causing raised fibrinogen levels | |
| Protein S (3%) | Mutations causing reduced thrombomodulin activity | |
| Factor V Leiden (20%) | Mutations causing reduced TFPI activity | |
| F2G20210A (6%) | Deletion/insertion polymorphism of the ACE gene | |
| Mutations causing high plasma homocysteine (unknown) | ||
| Mutations causing dysfibrinogenaemia (very rare) | ||