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Abnormal coagulation factor V activity

MedGen UID:
1633263
•Concept ID:
C4703602
•
Pathologic Function
Synonym: Abnormal factor V activity
 
HPO: HP:0031899

Definition

Any deviation from the activity of coagulation factor V. [from HPO]

Professional guidelines

PubMed

Hematologic genetic testing in high-risk patients before knee arthroplasty: a pilot study.
Bedair H, Berli M, Gezer S, Jacobs JJ, Della Valle CJ
Clin Orthop Relat Res 2011 Jan;469(1):131-7. doi: 10.1007/s11999-010-1514-2. PMID: 20824408Free PMC Article
Diagnostic algorithm for thrombophilia screening.
Margetic S
Clin Chem Lab Med 2010 Dec;48 Suppl 1:S27-39. Epub 2010 Nov 5 doi: 10.1515/CCLM.2010.362. PMID: 21054193
Frequency of thrombophilia determinant factors in patients with livedoid vasculopathy and treatment with anticoagulant drugs--a prospective study.
Di Giacomo TB, Hussein TP, Souza DG, Criado PR
J Eur Acad Dermatol Venereol 2010 Nov;24(11):1340-6. doi: 10.1111/j.1468-3083.2010.03646.x. PMID: 20337814

Recent clinical studies

Etiology

Endothelial dysfunction, thrombophilia, and nailfold capillaroscopic features in livedoid vasculopathy.
Apti Sengun O, Ergun T, Guctekin T, Alibaz Oner F
Microvasc Res 2023 Nov;150:104591. Epub 2023 Aug 4 doi: 10.1016/j.mvr.2023.104591. PMID: 37543163
Laboratory Diagnostics in Thrombophilia.
Linnemann B, Hart C
Hamostaseologie 2019 Feb;39(1):49-61. Epub 2019 Jan 31 doi: 10.1055/s-0039-1677840. PMID: 30703819
Hypercoagulability and Migraine.
Tietjen GE, Collins SA
Headache 2018 Jan;58(1):173-183. Epub 2017 Feb 9 doi: 10.1111/head.13044. PMID: 28181217
Recurrent pregnancy loss: etiology of thrombophilia.
Yamada H, Kato EH, Kobashi G, Ebina Y, Shimada S, Morikawa M, Yamada T, Sakuragi N, Fujimoto S
Semin Thromb Hemost 2001;27(2):121-9. doi: 10.1055/s-2001-14070. PMID: 11372765
Perinatal aspects of inherited thrombophilia.
Bonnar J, Green R, Norris L
Semin Thromb Hemost 1999;25(5):481-5. doi: 10.1055/s-2007-994954. PMID: 10625206

Diagnosis

Endothelial dysfunction, thrombophilia, and nailfold capillaroscopic features in livedoid vasculopathy.
Apti Sengun O, Ergun T, Guctekin T, Alibaz Oner F
Microvasc Res 2023 Nov;150:104591. Epub 2023 Aug 4 doi: 10.1016/j.mvr.2023.104591. PMID: 37543163
Laboratory Diagnostics in Thrombophilia.
Linnemann B, Hart C
Hamostaseologie 2019 Feb;39(1):49-61. Epub 2019 Jan 31 doi: 10.1055/s-0039-1677840. PMID: 30703819
Hypercoagulability and Migraine.
Tietjen GE, Collins SA
Headache 2018 Jan;58(1):173-183. Epub 2017 Feb 9 doi: 10.1111/head.13044. PMID: 28181217
Diagnostic algorithm for thrombophilia screening.
Margetic S
Clin Chem Lab Med 2010 Dec;48 Suppl 1:S27-39. Epub 2010 Nov 5 doi: 10.1515/CCLM.2010.362. PMID: 21054193
The molecular basis of inherited thrombophilia.
Manucci PM
Vox Sang 2000;78 Suppl 2:39-45. PMID: 10938925

Therapy

Impaired factor V-related anticoagulant mechanisms and deep vein thrombosis associated with A2086D and W1920R mutations.
Shimonishi N, Ogiwara K, Yoshida J, Horie K, Nakajima Y, Furukawa S, Takeyama M, Nogami K
Blood Adv 2023 Jun 27;7(12):2831-2842. doi: 10.1182/bloodadvances.2022008918. PMID: 36780344Free PMC Article
Laboratory Diagnostics in Thrombophilia.
Linnemann B, Hart C
Hamostaseologie 2019 Feb;39(1):49-61. Epub 2019 Jan 31 doi: 10.1055/s-0039-1677840. PMID: 30703819
Hypercoagulability and Migraine.
Tietjen GE, Collins SA
Headache 2018 Jan;58(1):173-183. Epub 2017 Feb 9 doi: 10.1111/head.13044. PMID: 28181217
Testosterone, thrombophilia, and thrombosis.
Glueck CJ, Richardson-Royer C, Schultz R, Burger T, Labitue F, Riaz MK, Padda J, Bowe D, Goldenberg N, Wang P
Clin Appl Thromb Hemost 2014 Jan;20(1):22-30. Epub 2013 Apr 23 doi: 10.1177/1076029613485154. PMID: 23615294
Perinatal aspects of inherited thrombophilia.
Bonnar J, Green R, Norris L
Semin Thromb Hemost 1999;25(5):481-5. doi: 10.1055/s-2007-994954. PMID: 10625206

Prognosis

Blood coagulation system in patients with chronic kidney disease: a prospective observational study.
Huang MJ, Wei RB, Wang Y, Su TY, Di P, Li QP, Yang X, Li P, Chen XM
BMJ Open 2017 Jun 1;7(5):e014294. doi: 10.1136/bmjopen-2016-014294. PMID: 28576889Free PMC Article
Past and future of genetic research in thrombosis.
Reitsma PH, Rosendaal FR
J Thromb Haemost 2007 Jul;5 Suppl 1:264-9. doi: 10.1111/j.1538-7836.2007.02502.x. PMID: 17635735
Diagnostic approach to hypercoagulable states.
Remkova A
Bratisl Lek Listy 2006;107(8):292-5. PMID: 17125064
Topical thrombin and acquired coagulation factor inhibitors: clinical spectrum and laboratory diagnosis.
Ortel TL, Charles LA, Keller FG, Marcom PK, Oldham HN Jr, Kane WH, Macik BG
Am J Hematol 1994 Feb;45(2):128-35. doi: 10.1002/ajh.2830450206. PMID: 8141118
Coagulation abnormalities in liver disease.
Lechner K, Niessner H, Thaler E
Semin Thromb Hemost 1977 Summer;4(1):40-56. doi: 10.1055/s-0028-1087127. PMID: 199944

Clinical prediction guides

Characterization of thrombosis in patients with Proteus syndrome.
Keppler-Noreuil KM, Lozier JN, Sapp JC, Biesecker LG
Am J Med Genet A 2017 Sep;173(9):2359-2365. Epub 2017 Jun 19 doi: 10.1002/ajmg.a.38311. PMID: 28627093Free PMC Article
A principal component analysis of coagulation after trauma.
Kutcher ME, Ferguson AR, Cohen MJ
J Trauma Acute Care Surg 2013 May;74(5):1223-9; discussion 1229-30. doi: 10.1097/TA.0b013e31828b7fa1. PMID: 23609271Free PMC Article
Past and future of genetic research in thrombosis.
Reitsma PH, Rosendaal FR
J Thromb Haemost 2007 Jul;5 Suppl 1:264-9. doi: 10.1111/j.1538-7836.2007.02502.x. PMID: 17635735
Factor V Leiden mutation carriership and venous thromboembolism in polycythemia vera and essential thrombocythemia.
Ruggeri M, Gisslinger H, Tosetto A, Rintelen C, Mannhalter C, Pabinger I, Heis N, Castaman G, Missiaglia E, Lechner K, Rodeghiero F
Am J Hematol 2002 Sep;71(1):1-6. doi: 10.1002/ajh.10153. PMID: 12221665
Wasp sting anaphylaxis.
Ratnoff OD, Nossel HL
Blood 1983 Jan;61(1):132-9. PMID: 6336652

Recent systematic reviews

The risk of recurrent venous thromboembolism among heterozygous carriers of factor V Leiden or prothrombin G20210A mutation. A systematic review of prospective studies.
Marchiori A, Mosena L, Prins MH, Prandoni P
Haematologica 2007 Aug;92(8):1107-14. doi: 10.3324/haematol.10234. PMID: 17650440

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