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Factor V Leiden

Other Known Aliases – rs6025

Definition – mutated form of factor V that is unable to bind to protein C and leads to a hypercoaguable state

Clinical Significance – This is the most common hereditary hypercoaguability disorder in patients with European lineage. It increases the lifetime risk of DV, PTE, and stroke and patient are managed with lifelong anticoagulation.

History – Named after the Dutch city of Leiden where it was first discovered by Professor Rogier Bertina and Professor Pieter Reitsma in 1994 and subsequently published in Nature in their article entitled “Mutation in blood coagulation factor V associated with resistance to activated protein C”. Leiden has been one of Europe’s most prominent scientific centres for more than 400 years. It contains the oldest university in the Netherlands and has produced 13 Nobel Prize winners.

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References

1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
5. Up To Date. www.uptodate.com
6. 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):64-7. [pubmed]