Thrombophilias: Guide to Hereditary and Acquired Conditions
Thrombophilias may be hereditary or acquired and the risk/severity of thrombosis varies widely between conditions.
| Hereditary Thrombophilia | Relative Risk For A First Venous Thromboembolism (Compared To Community Controls) |
Factor V Leiden
|
3x – 7x 80x |
Prothrombin G20210A
|
2x – 3x
5x |
| Double heterozygosity (Factor V Leiden and prothrombin G20210A) | 6x |
| Antithrombin deficiency | 5x |
| Protein C deficiency | 4x – 6.5x |
| Protein S deficiency | 1x – 3x |
| Pseudohomozygous Factor V Leiden | 80x |
| Factor IX Padua | 10x |
| Antithrombin resistance | 2x – 3x |
| Factor VIII ≥150 IU/dl | 3x – 5x |
| Factor IX ≥129 IU/dl | 2.3x |
| Factor XI ≥121 IU/dl | 2x |
Adapted from: Campello E, Spiezia L, Adamo A, Simioni P. Thrombophilia, risk factors and prevention. Expert Rev Hematol. 2019 Mar 4;12(3):147–58.
| Acquired Thrombophilia | Relative Risk For A First Venous Thromboembolism (Compared To Community Controls) |
| Antiphospholipid antibody syndrome | 3x – 10x |
| Hyperhomocysteinemia | 1.5x – 3x |
| Surgery | 1.7x – 2.8x |
| Trauma | 3x – 5x |
| Pregnancy | 5x – 50x |
| Estrogen-progestogen therapies | 2x – 9x |
| Cancer | 4x – 7x |
| Myeloproliferative neoplasms | 3x |
| Economy class syndrome (DVT on long haul flights) | 2x – 4x |
| Obesity (BMI ≥30 Kg/m2) | 2x – 3x |
Adapted from: Campello E, Spiezia L, Adamo A, Simioni P. Thrombophilia, risk factors and prevention. Expert Rev Hematol. 2019 Mar 4;12(3):147–58.
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