Thrombophilia causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: 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.
Causes
Inherited
Common inherited causes of thrombophilia include:
- 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 (APC).[1]
- 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.[2]
- Coinheritance of multiple thrombophilias is not infrequent, and does increase the thrombotic risk in affected patients.
Rare causes of thrombophilia include:
- Antithrombin III deficiency
- Protein C deficiency
- Protein S deficiency
- Dysfibrinogenemia
- Hyperhomocysteinemia
- Activated protein C resistance in the abscence of factor V leiden
- HR2 haplotype
- Additional mutations in the cleavage site of factor V by APC
- Increased levels of factor VIII, factor IX, factor XI, or fibrinogen
Causes of Thrombophilia by Organ System
References
- ↑ 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.