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inherited-thrombophilia
Inherited Thrombophilia
Inherited thrombophilias are genetic risk factors for VTE; Factor V Leiden R506Q (5% Europeans; APC resistance) and prothrombin G20210A are most common; protein C/S and antithrombin deficiencies are rarer but higher-risk. Duration of anticoagulation is the main clinical impact.
Entry Metadata
| Field | Value |
|---|---|
| ID | inherited-thrombophilia |
| Name | Inherited Thrombophilia |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 07-system |
Cross-Atlas Connections
Sources
- Dahlbäck B. Advances in understanding pathogenic mechanisms of thrombophilic disorders. Blood. 2008;112(1):19-27. · PubMed 18574048
- Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369(6475):64-67. · PubMed 8164741
- Kearon C, Akl EA, Ornelas J, et al. Antithrombotic therapy for VTE disease: CHEST guideline and expert panel report. Chest. 2016;149(2):315-352. · PubMed 26867832