Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Knipe H, Sriselvakumar S, Prothrombin 20210 mutation. Reference article, Radiopaedia.org (Accessed on 06 May 2024) https://doi.org/10.53347/rID-171244
Disclosures:
At the time the article was last revised Henry Knipe had the following disclosures:
- Integral Diagnostics, Shareholder (ongoing)
- Micro-X Ltd, Shareholder (ongoing)
These were assessed during peer review and were determined to
not be relevant to the changes that were made.
View Henry Knipe's current disclosures
Prothrombin 20210 mutation is a prothrombotic hematological condition which predisposes individuals to thromboembolic events such as
Epidemiology
It is considered the second most commonly inherited thrombophilia after factor V Leiden (FVL) 1. Overall prevalence can vary but can range between 1-6% of those with heterogenous PTM, with an overall prevalence estimated at 2% of the general population according to limited published data. The annual incidence of the first episode of VTE was noted 0.35% in carriers 2.
History and etymology
Poort and colleagues first described it in 1996 1.
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1. Elkattawy S, Alyacoub R, Singh K, Fichadiya H, Kessler W. Prothrombin G20210A Gene Mutation-Induced Recurrent Deep Vein Thrombosis and Pulmonary Embolism: Case Report and Literature Review. J Investig Med High Impact Case Rep. 2022;10:23247096211058486. doi:10.1177/23247096211058486 - Pubmed
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2. Bank I, Libourel E, Middeldorp S et al. Prothrombin 20210A Mutation. Arch Intern Med. 2004;164(17):1932. doi:10.1001/archinte.164.17.1932 - Pubmed
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3. Varga E & Moll S. Prothrombin 20210 Mutation (Factor II Mutation). Circulation. 2004;110(3):e15-8. doi:10.1161/01.cir.0000135582.53444.87 - Pubmed
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