Thrombophilia causes: Difference between revisions
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* [[Protein S deficiency]] | * [[Protein S deficiency]] | ||
* [[Dysfibrinogenemia]] | * [[Dysfibrinogenemia]] | ||
* | * [[Hyperhomocysteinemia]] | ||
* Increased levels of factor VIII, factor IX, factor XI, or [[fibrinogen]]. | * Increased levels of factor VIII, factor IX, factor XI, or [[fibrinogen]]. | ||
===Acquired=== | ===Acquired and Mixed/Unknown=== | ||
* | * Refer to [[Thrombophilia_classification]] | ||
==Causes of Thrombophilia by Organ System== | ==Causes of Thrombophilia by Organ System== | ||
Revision as of 20:18, 24 June 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Asiri Ediriwickrema, M.D., M.H.S. [2]
Overview
- Thrombophilia may be caused by either acquired, inherited, or, more commonly, a combination of both conditions.
- The most common forms of inherited thrombophilia are Factor V Leiden (20-50% prevalence in patients with recurrent venous thrombosis) and prothrombon G20210A (5-20% prevalence in patients with recurrent venous thrombosis)[1][2].
Causes
Inherited
Common types:
- Factor V Leiden: Factor V is a procoagulant which upon activation promotes the formation of thrombin. In 1994, Bertina and colleagues identified a single nucleotide polymorphism (guanine to adenine substitution in nucleotide 1691), which rendered factor V resistant to proteolytic inactivation by activated protein C[3].
- Prothrombin G20210A: Prothrombin, or factor II, is a precursor to throbmin. A single nucleotide polymorphism (guanine to adenonine substitution in in nucleotide 20210) was first identied by Poort and colleages in 1996. The mutation was associated with elevated prothrombin, thought to be due to increased translation efficiency, and an increased risk of thrombosis[4].
Rare forms:
- Antithrombin III deficiency
- Protein C deficiency
- Protein S deficiency
- Dysfibrinogenemia
- Hyperhomocysteinemia
- Increased levels of factor VIII, factor IX, factor XI, or fibrinogen.
Acquired and Mixed/Unknown
- Refer to Thrombophilia_classification
Causes of Thrombophilia by Organ System
References
- ↑ Seligsohn U, Lubetsky A (2001). "Genetic susceptibility to venous thrombosis". N Engl J Med. 344 (16): 1222–31. doi:10.1056/NEJM200104193441607. PMID 11309638.
- ↑ Cohoon KP, Heit JA (2014). "Inherited and secondary thrombophilia". Circulation. 129 (2): 254–7. doi:10.1161/CIRCULATIONAHA.113.001943. PMC 3979345. PMID 24421360.
- ↑ Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H; et al. (1994). "Mutation in blood coagulation factor V associated with resistance to activated protein C." Nature. 369 (6475): 64–7. doi:10.1038/369064a0. PMID 8164741.
- ↑ Poort SR, Rosendaal FR, Reitsma PH, Bertina RM (1996). "A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis". Blood. 88 (10): 3698–703. PMID 8916933.