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Homozygous Factor V Leiden mutation

MedGen UID:
667381
•Concept ID:
C0584983
•
Disease or Syndrome
SNOMED CT: Homozygous Factor V Leiden mutation (307115002)

Professional guidelines

PubMed

Primary and secondary thrombophiliа: pathogenesis, clinical presentation, approaches to thrombotic complications prevention and treatment.
Bereziuk OM, Mazur JV, Berko GK, Perebetiuk LS, Velychkovych MM, Temna OV, Movchan HO
Wiad Lek 2019;72(5 cz 1):908-913. PMID: 31175794
Cost-effectiveness of testing for hypercoagulability and effects on treatment strategies in patients with deep vein thrombosis.
Auerbach AD, Sanders GD, Hambleton J
Am J Med 2004 Jun 15;116(12):816-28. doi: 10.1016/j.amjmed.2004.01.017. PMID: 15178497

Recent clinical studies

Etiology

Clinical, radiological profile and prognostic role of transcranial color-coded duplex in cerebral venous thrombosis: a case-control study.
Aboul Fotouh AM, Helmy SM, Mourad HS, Abdelbaky HA, Hatem G
BMC Neurol 2023 Aug 7;23(1):295. doi: 10.1186/s12883-023-03342-z. PMID: 37550633Free PMC Article
Primary and secondary thrombophiliа: pathogenesis, clinical presentation, approaches to thrombotic complications prevention and treatment.
Bereziuk OM, Mazur JV, Berko GK, Perebetiuk LS, Velychkovych MM, Temna OV, Movchan HO
Wiad Lek 2019;72(5 cz 1):908-913. PMID: 31175794
Factor V Leiden, prothrombin G20210A, and methylene tetrahydrofolate reductase mutations and stillbirth: the Stillbirth Collaborative Research Network.
Silver RM, Saade GR, Thorsten V, Parker CB, Reddy UM, Drews-Botsch C, Conway D, Coustan D, Dudley DJ, Bukowski R, Rowland Hogue CJ, Pinar H, Varner MW, Goldenberg R, Willinger M
Am J Obstet Gynecol 2016 Oct;215(4):468.e1-468.e17. Epub 2016 Apr 27 doi: 10.1016/j.ajog.2016.04.026. PMID: 27131585
The most severe forms of Perthes' disease associated with the homozygous Factor V Leiden mutation.
Szepesi K, Pósán E, Hársfalvi J, Ajzner E, Szücs G, Gáspár L, Csernátony Z, Udvardy M
J Bone Joint Surg Br 2004 Apr;86(3):426-9. doi: 10.1302/0301-620x.86b3.13442. PMID: 15125132
Diagnosis and clinical characteristics of inherited activated protein C resistance.
Samama MM, Simon D, Horellou MH, Trossaërt M, Elalamy I, Conard J
Haemostasis 1996 Oct;26 Suppl 4:315-30. doi: 10.1159/000217312. PMID: 8979137

Diagnosis

Clinical, radiological profile and prognostic role of transcranial color-coded duplex in cerebral venous thrombosis: a case-control study.
Aboul Fotouh AM, Helmy SM, Mourad HS, Abdelbaky HA, Hatem G
BMC Neurol 2023 Aug 7;23(1):295. doi: 10.1186/s12883-023-03342-z. PMID: 37550633Free PMC Article
Homozygous Factor V Leiden presenting as irreversible chronic colon ischemia resulting from inferior mesenteric vein thrombosis.
Zheng K, Brandt LJ, LeFrancois D
Clin J Gastroenterol 2021 Aug;14(4):1142-1146. Epub 2021 May 18 doi: 10.1007/s12328-021-01440-4. PMID: 34003444
Cost-effectiveness of testing for hypercoagulability and effects on treatment strategies in patients with deep vein thrombosis.
Auerbach AD, Sanders GD, Hambleton J
Am J Med 2004 Jun 15;116(12):816-28. doi: 10.1016/j.amjmed.2004.01.017. PMID: 15178497
Factor V Leiden, protein C, and lipoprotein (a) in catheter-related thrombosis in childhood: a prospective study.
Nowak-Göttl U, Dübbers A, Kececioglu D, Koch HG, Kotthoff S, Runde J, Vielhaber H
J Pediatr 1997 Oct;131(4):608-12. doi: 10.1016/s0022-3476(97)70071-4. PMID: 9386668
Diagnosis and clinical characteristics of inherited activated protein C resistance.
Samama MM, Simon D, Horellou MH, Trossaërt M, Elalamy I, Conard J
Haemostasis 1996 Oct;26 Suppl 4:315-30. doi: 10.1159/000217312. PMID: 8979137

Therapy

Protein S testing in patients with protein S deficiency, factor V Leiden, and rivaroxaban by North American Specialized Coagulation Laboratories.
Smock KJ, Plumhoff EA, Meijer P, Hsu P, Zantek ND, Heikal NM, Van Cott EM
Thromb Haemost 2016 Jul 4;116(1):50-7. Epub 2016 Apr 14 doi: 10.1160/TH15-12-0918. PMID: 27075008
Cerebral venous thrombosis associated with homozygous factor V Leiden mutation in a 15-year-old girl of Tunisian origin.
Salem-Berrabah OB, Fekih-Mrissa N, Laayouni S, Gritli N, Mrissa R
Ann Saudi Med 2011 Nov-Dec;31(6):651-4. doi: 10.4103/0256-4947.87106. PMID: 22048515Free PMC Article
Pregnancy-associated risk for venous thromboembolism and pregnancy outcome in women homozygous for factor V Leiden.
Pabinger I, Nemes L, Rintelen C, Koder S, Lechler E, Loreth RM, Kyrle PA, Scharrer I, Sas G, Lechner K, Mannhalter C, Ehrenforth S
Hematol J 2000;1(1):37-41. doi: 10.1038/sj.thj.6200005. PMID: 11920167
Factor V Leiden, protein C, and lipoprotein (a) in catheter-related thrombosis in childhood: a prospective study.
Nowak-Göttl U, Dübbers A, Kececioglu D, Koch HG, Kotthoff S, Runde J, Vielhaber H
J Pediatr 1997 Oct;131(4):608-12. doi: 10.1016/s0022-3476(97)70071-4. PMID: 9386668
Diagnosis and clinical characteristics of inherited activated protein C resistance.
Samama MM, Simon D, Horellou MH, Trossaërt M, Elalamy I, Conard J
Haemostasis 1996 Oct;26 Suppl 4:315-30. doi: 10.1159/000217312. PMID: 8979137

Prognosis

Clinical, radiological profile and prognostic role of transcranial color-coded duplex in cerebral venous thrombosis: a case-control study.
Aboul Fotouh AM, Helmy SM, Mourad HS, Abdelbaky HA, Hatem G
BMC Neurol 2023 Aug 7;23(1):295. doi: 10.1186/s12883-023-03342-z. PMID: 37550633Free PMC Article
Hereditary risk factors for thrombophilia and probability of venous thromboembolism during pregnancy and the puerperium.
Gerhardt A, Scharf RE, Greer IA, Zotz RB
Blood 2016 Nov 10;128(19):2343-2349. Epub 2016 Sep 9 doi: 10.1182/blood-2016-03-703728. PMID: 27613196Free PMC Article
The most severe forms of Perthes' disease associated with the homozygous Factor V Leiden mutation.
Szepesi K, Pósán E, Hársfalvi J, Ajzner E, Szücs G, Gáspár L, Csernátony Z, Udvardy M
J Bone Joint Surg Br 2004 Apr;86(3):426-9. doi: 10.1302/0301-620x.86b3.13442. PMID: 15125132
Thrombotic and fibrinolytic alterations in the aseptic necrosis of femoral head.
Pósán E, Szepesi K, Gáspár L, Csernátony Z, Hársfalvi J, Ajzner E, Tóth A, Udvardy M
Blood Coagul Fibrinolysis 2003 Apr;14(3):243-8. doi: 10.1097/01.mbc.0000061299.28953.34. PMID: 12695746
Diagnosis and clinical characteristics of inherited activated protein C resistance.
Samama MM, Simon D, Horellou MH, Trossaërt M, Elalamy I, Conard J
Haemostasis 1996 Oct;26 Suppl 4:315-30. doi: 10.1159/000217312. PMID: 8979137

Clinical prediction guides

Evidence-Based Minireview: Should warfarin or a direct oral anticoagulant be used in patients presenting with thrombosis in the splanchnic or cerebral veins?
Mathew C, Zumberg M
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):100-105. doi: 10.1182/hematology.2021000319. PMID: 34889369Free PMC Article
The predictability of factor V Leiden (FV:Q(506)) gene mutation via clotting-based diagnosis of activated protein C resistance.
Sayinalp N, Haznedaroğlu IC, Aksu S, Büyükaşik Y, Göker H, Parlak H, Ozcebe OI, Kirazli S, Dündar SV, Gürgey A
Clin Appl Thromb Hemost 2004 Jul;10(3):265-70. doi: 10.1177/107602960401000309. PMID: 15247984
Thrombotic and fibrinolytic alterations in the aseptic necrosis of femoral head.
Pósán E, Szepesi K, Gáspár L, Csernátony Z, Hársfalvi J, Ajzner E, Tóth A, Udvardy M
Blood Coagul Fibrinolysis 2003 Apr;14(3):243-8. doi: 10.1097/01.mbc.0000061299.28953.34. PMID: 12695746
Diagnosis and clinical characteristics of inherited activated protein C resistance.
Samama MM, Simon D, Horellou MH, Trossaërt M, Elalamy I, Conard J
Haemostasis 1996 Oct;26 Suppl 4:315-30. doi: 10.1159/000217312. PMID: 8979137

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