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HandWiki. Factor V Leiden. Encyclopedia. Available online: https://encyclopedia.pub/entry/33344 (accessed on 25 September 2026).
HandWiki. Factor V Leiden. Encyclopedia. Available at: https://encyclopedia.pub/entry/33344. Accessed September 25, 2026.
HandWiki. "Factor V Leiden" Encyclopedia, https://encyclopedia.pub/entry/33344 (accessed September 25, 2026).
HandWiki. (2022, November 07). Factor V Leiden. In Encyclopedia. https://encyclopedia.pub/entry/33344
HandWiki. "Factor V Leiden." Encyclopedia. Web. 07 November, 2022.
Factor V Leiden
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The content is sourced from: https://handwiki.org/wiki/Medicine:Factor_V_Leiden

Factor V Leiden (rs6025 or F5 p.R506Q) is a variant (mutated form) of human factor V (one of several substances that helps blood clot), which causes an increase in blood clotting (hypercoagulability). Due to this mutation, protein C, an anticoagulant protein that normally inhibits the pro-clotting activity of factor V, is not able to bind normally to factor V, leading to a hypercoagulable state, i.e., an increased tendency for the patient to form abnormal and potentially harmful blood clots. Factor V Leiden is the most common hereditary hypercoagulability (prone to clotting) disorder amongst ethnic Europeans. It is named after the Dutch city of Leiden, where it was first identified in 1994 by Rogier Maria Bertina under the direction of (and in the laboratory of) Pieter Hendrick Reitsma. Despite the increased risk of venous thromboembolisms, people with one copy of this gene have not been found to have shorter lives than the general population.

blood clotting p.r506q hypercoagulability

References

  1. "SNP linked to Gene F5". NCBI. https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=2153. 
  2. Jennifer Bushwitz; Michael A. Pacanowski (2006-10-11). "Important Variant Information for F5". PharmGKB. http://www.pharmgkb.org/search/annotatedGene/f5/variant.jsp. 
  3. Juul, Klaus; Tybjærg-Hansen, Anne; Steffensen, Rolf; Kofoed, Steen; Jensen, Gorm; Nordestgaard, Børge Grønne (2002-07-01). "Factor V Leiden: The Copenhagen City Heart Study and 2 meta-analyses" (in en). Blood 100 (1): 3–10. doi:10.1182/blood-2002-01-0111. ISSN 1528-0020. PMID 12070000. https://ashpublications.org/blood/article/100/1/3/133943/Factor-V-Leiden-The-Copenhagen-City-Heart-Study. 
  4. Ng, N; Brown, JRI; Edmondson, RA; Tillyer, Ml (May 2000). "LESSON OF THE MONTH – Catastrophic Arterial Thromboembolism Associated with Factor V Leiden" (in en). European Journal of Vascular and Endovascular Surgery 19 (5): 551–553. doi:10.1053/ejvs.1999.0971. PMID 10828239.  https://dx.doi.org/10.1053%2Fejvs.1999.0971
  5. "Factor V Leiden Mutation – Homozygous". https://www.wsh.nhs.uk/CMS-Documents/Patient-leaflets/PathologyServices/Haematology/5842-1-Homozygous-Factor-V-Leiden-Mutation.pdf. 
  6. Ornstein, Deborah L.; Cushman, Mary (2003). "Factor V Leiden". Circulation 107 (15): e94-7. doi:10.1161/01.CIR.0000068167.08920.F1. ISSN 0009-7322. PMID 12707252.  https://dx.doi.org/10.1161%2F01.CIR.0000068167.08920.F1
  7. Keo, Hong H; Fahrni, Jennifer; Husmann, Marc; Gretener, Silvia B. (2015). "Assessing the risk of recurrent venous thromboembolism – a practical approach". Vascular Health and Risk Management 11: 451–9. doi:10.2147/VHRM.S83718. ISSN 1178-2048. PMID 26316770.  http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=4544622
  8. "Activated protein C resistance and thrombosis". Mayo Clin Proc 71 (9): 897–8. September 1996. doi:10.4065/71.9.897. PMID 8790269.  https://dx.doi.org/10.4065%2F71.9.897
  9. Ridker, et al. "Ethnic distribution of factor V Leiden in 4047 men and women". Supra.
  10. Gregg, et al. "Prevalence of the factor V-Leiden mutation in four distinct American ethnic populations". Supra.
  11. Id.
  12. What do we know about heredity and factor V Leiden thrombophilia? http://www.genome.gov/15015167#Q5
  13. "Inherited thrombophilia and pregnancy complications revisited". Obstetrics and Gynecology 112 (2 Pt 1): 320–24. August 2008. doi:10.1097/AOG.0b013e31817e8acc. PMID 18669729.  https://dx.doi.org/10.1097%2FAOG.0b013e31817e8acc
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