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Factor V Leiden mutation

MedGen UID:
473218
•Concept ID:
C0584960
•
Disease or Syndrome
Synonyms: Factor 5 Leiden mutation; Factor V Leiden; Factor V Leiden Mutation
SNOMED CT: Factor 5 Leiden mutation (307091009); Factor V Leiden mutation (307091009)

Definition

An abnormality that refers to mutation of factor V Leiden, which is a variant of human factor V. It results in thrombophilia, deep vein thrombosis, and a slightly increased risk of miscarriage. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFactor V Leiden mutation

Professional guidelines

PubMed

Rare emergency in children: Priapism and stepwise treatment approach.
Karagözlü Akgül A, Uçar M, Özçakır E, Balkan E, Kılıç N
Ulus Travma Acil Cerrahi Derg 2022 Apr;28(4):464-470. doi: 10.14744/tjtes.2020.74670. PMID: 35485519Free PMC Article
Livedoid vasculopathy: A review of pathogenesis and principles of management.
Vasudevan B, Neema S, Verma R
Indian J Dermatol Venereol Leprol 2016 Sep-Oct;82(5):478-88. doi: 10.4103/0378-6323.183635. PMID: 27297279
Coagulation disorders and their cutaneous presentations: Diagnostic work-up and treatment.
Dabiri G, Damstetter E, Chang Y, Baiyee Ebot E, Powers JG, Phillips T
J Am Acad Dermatol 2016 May;74(5):795-804; quiz 805-6. doi: 10.1016/j.jaad.2015.08.071. PMID: 27085226

Recent clinical studies

Etiology

Factor V Leiden thrombophilia dental considerations.
Brooks JK, Elrafei A, Ord RA
Gen Dent 2019 May-Jun;67(3):21-24. PMID: 31199740
Inherited and acquired thrombophilias.
Rambaldi MP, Mecacci F, Guaschino S, Paidas MJ
Reprod Sci 2014 Feb;21(2):167-82. Epub 2013 Jul 30 doi: 10.1177/1933719113497282. PMID: 23899550
Factor v Leiden mutation in severe infection and sepsis.
Levi M, Schouten M, van't Veer C, van der Poll T
Semin Thromb Hemost 2011 Nov;37(8):955-60. Epub 2011 Dec 23 doi: 10.1055/s-0031-1297374. PMID: 22198860
Factor V Leiden and inflammatory bowel disease: a systematic review and meta-analysis.
Liang J, Wu S, Feng B, Lei S, Luo G, Wang J, Li K, Li X, Xie H, Zhang D, Wang X, Wu K, Miao D, Fan D
J Gastroenterol 2011 Oct;46(10):1158-66. Epub 2011 Jul 30 doi: 10.1007/s00535-011-0441-7. PMID: 21805067
Thrombophilia.
Huisman MV, Rosendaal F
Curr Opin Hematol 1999 Sep;6(5):291-7. doi: 10.1097/00062752-199909000-00004. PMID: 10468143

Diagnosis

Thrombophilia Testing - a Systematic Review.
Asmis L, Hellstern P
Clin Lab 2023 Apr 1;69(4) doi: 10.7754/Clin.Lab.2022.220817. PMID: 37057948
Factor V Leiden thrombophilia dental considerations.
Brooks JK, Elrafei A, Ord RA
Gen Dent 2019 May-Jun;67(3):21-24. PMID: 31199740
Venous thrombosis.
Wolberg AS, Rosendaal FR, Weitz JI, Jaffer IH, Agnelli G, Baglin T, Mackman N
Nat Rev Dis Primers 2015 May 7;1:15006. doi: 10.1038/nrdp.2015.6. PMID: 27189130
Inherited and acquired thrombophilias.
Rambaldi MP, Mecacci F, Guaschino S, Paidas MJ
Reprod Sci 2014 Feb;21(2):167-82. Epub 2013 Jul 30 doi: 10.1177/1933719113497282. PMID: 23899550
Malignancies, prothrombotic mutations, and the risk of venous thrombosis.
Blom JW, Doggen CJ, Osanto S, Rosendaal FR
JAMA 2005 Feb 9;293(6):715-22. doi: 10.1001/jama.293.6.715. PMID: 15701913

Therapy

Thrombophilia Testing - a Systematic Review.
Asmis L, Hellstern P
Clin Lab 2023 Apr 1;69(4) doi: 10.7754/Clin.Lab.2022.220817. PMID: 37057948
Ischemic Stroke After Plasmapheresis.
Salahuddin H, Sheikh AA, Hussaini S, Verghese C, Tietjen GE
Am J Med Sci 2018 Oct;356(4):399-403. Epub 2018 Mar 29 doi: 10.1016/j.amjms.2018.03.021. PMID: 29980285
The Role of Anticoagulants in the Prevention of Pregnancy Complications.
Leaf RK, Connors JM
Clin Appl Thromb Hemost 2017 Mar;23(2):116-123. Epub 2016 Jul 10 doi: 10.1177/1076029615615972. PMID: 26566668
Venous thrombosis.
Wolberg AS, Rosendaal FR, Weitz JI, Jaffer IH, Agnelli G, Baglin T, Mackman N
Nat Rev Dis Primers 2015 May 7;1:15006. doi: 10.1038/nrdp.2015.6. PMID: 27189130
Inherited and acquired thrombophilias.
Rambaldi MP, Mecacci F, Guaschino S, Paidas MJ
Reprod Sci 2014 Feb;21(2):167-82. Epub 2013 Jul 30 doi: 10.1177/1933719113497282. PMID: 23899550

Prognosis

Thrombin generation profile in non-thrombotic factor V Leiden carriers.
Billoir P, Duflot T, Fresel M, Chrétien MH, Barbay V, Le Cam Duchez V
J Thromb Thrombolysis 2019 Apr;47(3):473-477. doi: 10.1007/s11239-019-01821-0. PMID: 30701464
Type of Combined Contraceptives, Factor V Leiden Mutation and Risk of Venous Thromboembolism.
Hugon-Rodin J, Horellou MH, Conard J, Gompel A, Plu-Bureau G
Thromb Haemost 2018 May;118(5):922-928. Epub 2018 Apr 3 doi: 10.1055/s-0038-1641152. PMID: 29614525
Effect of the factor V Leiden mutation on the incidence and outcome of severe infection and sepsis.
Schouten M, van 't Veer C, van der Poll T, Levi M
Neth J Med 2012 Sep;70(7):306-10. PMID: 22961823
Behçet's disease: from Hippocrates to the third millennium.
Verity DH, Wallace GR, Vaughan RW, Stanford MR
Br J Ophthalmol 2003 Sep;87(9):1175-83. doi: 10.1136/bjo.87.9.1175. PMID: 12928293Free PMC Article
Epidemiology of venous thromboembolism.
Kearon C
Semin Vasc Med 2001;1(1):7-26. doi: 10.1055/s-2001-14668. PMID: 15199510

Clinical prediction guides

Thrombophilia Testing - a Systematic Review.
Asmis L, Hellstern P
Clin Lab 2023 Apr 1;69(4) doi: 10.7754/Clin.Lab.2022.220817. PMID: 37057948
Factor V Leiden mutation in women with early recurrent pregnancy loss: a meta-analysis and systematic review of the causal association.
Sergi C, Al Jishi T, Walker M
Arch Gynecol Obstet 2015 Mar;291(3):671-9. Epub 2014 Sep 6 doi: 10.1007/s00404-014-3443-x. PMID: 25193429
Factor V Leiden mutation and its impact on pregnancy complications.
Hammerová L, Chabada J, Drobný J, Bátorová A
Acta Medica (Hradec Kralove) 2011;54(3):117-21. doi: 10.14712/18059694.2016.32. PMID: 22250481
Usefulness of factor V Leiden mutation testing in clinical practice.
Blinkenberg EØ, Kristoffersen AH, Sandberg S, Steen VM, Houge G
Eur J Hum Genet 2010 Aug;18(8):862-6. Epub 2010 Mar 24 doi: 10.1038/ejhg.2010.33. PMID: 20332812Free PMC Article
Inherited thrombophilia and fetal loss.
Brenner B
Curr Opin Hematol 2000 Sep;7(5):290-5. doi: 10.1097/00062752-200009000-00006. PMID: 10961579

Recent systematic reviews

Thrombophilia Testing - a Systematic Review.
Asmis L, Hellstern P
Clin Lab 2023 Apr 1;69(4) doi: 10.7754/Clin.Lab.2022.220817. PMID: 37057948
Testing for thrombophilia in mesenteric venous thrombosis - Retrospective original study and systematic review.
Zarrouk M, Salim S, Elf J, Gottsäter A, Acosta S
Best Pract Res Clin Gastroenterol 2017 Feb;31(1):39-48. Epub 2017 Jan 4 doi: 10.1016/j.bpg.2016.11.002. PMID: 28395787
Association Between Factor V Leiden Mutation, Small for Gestational Age, and Preterm Birth: A Systematic Review and Meta-Analysis.
Hemsworth EM, O'Reilly AM, Allen VM, Kuhle S, Brock JK; Knowledge Synthesis Group on Determinants of Preterm/LBW Births
J Obstet Gynaecol Can 2016 Oct;38(10):897-908. doi: 10.1016/j.jogc.2016.08.001. PMID: 27720088
Factor V Leiden mutation in women with early recurrent pregnancy loss: a meta-analysis and systematic review of the causal association.
Sergi C, Al Jishi T, Walker M
Arch Gynecol Obstet 2015 Mar;291(3):671-9. Epub 2014 Sep 6 doi: 10.1007/s00404-014-3443-x. PMID: 25193429
Factor V Leiden and inflammatory bowel disease: a systematic review and meta-analysis.
Liang J, Wu S, Feng B, Lei S, Luo G, Wang J, Li K, Li X, Xie H, Zhang D, Wang X, Wu K, Miao D, Fan D
J Gastroenterol 2011 Oct;46(10):1158-66. Epub 2011 Jul 30 doi: 10.1007/s00535-011-0441-7. PMID: 21805067

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