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Factor V deficiency

MedGen UID:
4633
Concept ID:
C0015499
Disease or Syndrome
Synonyms: LABILE FACTOR DEFICIENCY; OWREN PARAHEMOPHILIA; PARAHEMOPHILIA
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hereditary factor V deficiency disease (88776002); Parahemophilia (88776002); Hereditary hypoproaccelerinemia (88776002); Owren's disease (88776002); AC globulin deficiency (88776002)
 
Gene (location): F5 (1q24.2)
OMIM®: 227400
Orphanet: ORPHA326

Disease characteristics

Excerpted from the GeneReview: Factor V Leiden Thrombophilia
Factor V Leiden thrombophilia is characterized by a poor anticoagulant response to activated protein C (APC) and an increased risk for venous thromboembolism (VTE). Deep vein thrombosis (DVT) is the most common VTE, with the legs being the most common site. Thrombosis in unusual locations is less common. Evidence suggests that heterozygosity for the Leiden variant has at most a modest effect on risk for recurrent thrombosis after initial treatment of a first VTE. It is unlikely that factor V Leiden thrombophilia (i.e., heterozygosity or homozygosity for the Leiden variant) is a major factor contributing to pregnancy loss and other adverse pregnancy outcomes (preeclampsia, fetal growth restriction, and placental abruption). The clinical expression of factor V Leiden thrombophilia is influenced by the following: The number of Leiden variants (heterozygotes have a slightly increased risk for venous thrombosis; homozygotes have a much greater thrombotic risk). Coexisting genetic thrombophilic disorders, which have a supra-additive effect on overall thrombotic risk. Acquired thrombophilic disorders: antiphospholipid antibody (APLA) syndrome, paroxysmal nocturnal hemoglobinuria, myeloproliferative disorders, and increased levels of clotting factors. Circumstantial risk factors including but not limited to pregnancy, central venous catheters, travel, combined oral contraceptive (COC) use and other combined contraceptives, oral hormone replacement therapy (HRT), selective estrogen receptor modulators (SERMs), obesity, leg injury, and advancing age. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Jody L Kujovich   view full author information

Additional description

From GHR
Factor V deficiency is a rare bleeding disorder. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor V deficiency commonly causes nosebleeds; easy bruising; bleeding under the skin; bleeding of the gums; and prolonged or excessive bleeding following surgery, trauma, or childbirth. Women with factor V deficiency can have heavy or prolonged menstrual bleeding (menorrhagia). Bleeding into joint spaces (hemarthrosis) can also occur, although it is rare. Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal tract, which can be life-threatening.  https://ghr.nlm.nih.gov/condition/factor-v-deficiency

Clinical features

Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Menorrhagia
MedGen UID:
44358
Concept ID:
C0025323
Pathologic Function
Prolonged bleeding time
MedGen UID:
56231
Concept ID:
C0151529
Finding
Prolonged whole-blood clotting time
MedGen UID:
488780
Concept ID:
C0151563
Finding
Prolonged prothrombin time
MedGen UID:
56249
Concept ID:
C0151872
Finding
Prolonged partial thromboplastin time
MedGen UID:
66815
Concept ID:
C0240671
Finding
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
Reduced factor V activity
MedGen UID:
1369551
Concept ID:
C4317320
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFactor V deficiency
Follow this link to review classifications for Factor V deficiency in Orphanet.

Professional guidelines

PubMed

Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group.
Genet Med 2011 Jan;13(1):67-76. doi: 10.1097/GIM.0b013e3181fbe46f. PMID: 21150787
Grody WW, Griffin JH, Taylor AK, Korf BR, Heit JA; ACMG Factor V. Leiden Working Group.
Genet Med 2001 Mar-Apr;3(2):139-48. doi: 10.109700125817-200103000-00009. PMID: 11280951Free PMC Article

Recent clinical studies

Etiology

Safarpour MM, Haghpanah S, Meshksar A, Karimi M
Turk J Haematol 2017 Aug 2;34(3):250-253. Epub 2017 Mar 8 doi: 10.4274/tjh.2016.0448. PMID: 28270373Free PMC Article
Gavva C, Yates SG, Rambally S, Sarode R
Transfusion 2016 Jul;56(7):1745-9. Epub 2016 Apr 28 doi: 10.1111/trf.13623. PMID: 27125565
Park YH, Lim JH, Yi HG, Lee MH, Kim CS
J Korean Med Sci 2016 Feb;31(2):208-13. Epub 2016 Jan 25 doi: 10.3346/jkms.2016.31.2.208. PMID: 26839474Free PMC Article
Wang Y, Zhu L, Ye L, Xie Y, Pan J, Wang M
Blood Coagul Fibrinolysis 2014 Apr;25(3):283-5. doi: 10.1097/MBC.0000000000000048. PMID: 24675695
Iwase A, Goto M, Manabe S, Hirokawa W, Kobayashi H, Nakahara T, Takikawa S, Kotani T, Sumigama S, Tsuda H, Nakayama T, Suzuki N, Matsushita T, Kikkawa F
Fertil Steril 2011 May;95(6):2124.e5-7. Epub 2011 Feb 3 doi: 10.1016/j.fertnstert.2011.01.011. PMID: 21292261

Diagnosis

Safarpour MM, Haghpanah S, Meshksar A, Karimi M
Turk J Haematol 2017 Aug 2;34(3):250-253. Epub 2017 Mar 8 doi: 10.4274/tjh.2016.0448. PMID: 28270373Free PMC Article
Naderi M, Tabibian S, Shamsizadeh M, Dorgalaleh A
Int J Hematol 2016 Jun;103(6):673-5. Epub 2016 Mar 15 doi: 10.1007/s12185-016-1981-7. PMID: 26980222
Park YH, Lim JH, Yi HG, Lee MH, Kim CS
J Korean Med Sci 2016 Feb;31(2):208-13. Epub 2016 Jan 25 doi: 10.3346/jkms.2016.31.2.208. PMID: 26839474Free PMC Article
Nuzzo F, Bulato C, Nielsen BI, Lee K, Wielders SJ, Simioni P, Key NS, Castoldi E
Haemophilia 2015 Mar;21(2):241-8. Epub 2014 Dec 3 doi: 10.1111/hae.12554. PMID: 25470420
Naderi M, Tabibian S, Alizadeh S, Hosseini S, Zaker F, Bamedi T, Shamsizadeh M, Dorgalaleh A
Acta Haematol 2015;133(2):148-54. Epub 2014 Sep 26 doi: 10.1159/000363598. PMID: 25277779

Therapy

Safarpour MM, Haghpanah S, Meshksar A, Karimi M
Turk J Haematol 2017 Aug 2;34(3):250-253. Epub 2017 Mar 8 doi: 10.4274/tjh.2016.0448. PMID: 28270373Free PMC Article
Park YH, Lim JH, Yi HG, Lee MH, Kim CS
J Korean Med Sci 2016 Feb;31(2):208-13. Epub 2016 Jan 25 doi: 10.3346/jkms.2016.31.2.208. PMID: 26839474Free PMC Article
Bouchard BA, Chapin J, Brummel-Ziedins KE, Durda P, Key NS, Tracy PB
Blood 2015 Jun 4;125(23):3647-50. Epub 2015 Apr 20 doi: 10.1182/blood-2014-07-589580. PMID: 25896652Free PMC Article
Naderi M, Tabibian S, Alizadeh S, Hosseini S, Zaker F, Bamedi T, Shamsizadeh M, Dorgalaleh A
Acta Haematol 2015;133(2):148-54. Epub 2014 Sep 26 doi: 10.1159/000363598. PMID: 25277779
Stalnaker M, Esquivel P
J Pediatr Adolesc Gynecol 2015 Feb;28(1):e9-e12. Epub 2014 Mar 27 doi: 10.1016/j.jpag.2014.03.007. PMID: 25256869

Prognosis

Nuzzo F, Bulato C, Nielsen BI, Lee K, Wielders SJ, Simioni P, Key NS, Castoldi E
Haemophilia 2015 Mar;21(2):241-8. Epub 2014 Dec 3 doi: 10.1111/hae.12554. PMID: 25470420
Shakhnovich V, Daniel J, Wicklund B, Kearns G, Neville K
Haemophilia 2013 Mar;19(2):251-5. Epub 2012 Nov 23 doi: 10.1111/hae.12045. PMID: 23173558
Castoldi E, Duckers C, Radu C, Spiezia L, Rossetto V, Tagariello G, Rosing J, Simioni P
J Thromb Haemost 2011 May;9(5):959-68. doi: 10.1111/j.1538-7836.2011.04237.x. PMID: 21320286
Zheng W, Liu Y, Luo Y, Chen Z, Wang Y, Zhang L, Gao G, Yao Z
Thromb Haemost 2010 Sep;104(3):536-43. Epub 2010 Jul 20 doi: 10.1160/TH09-10-0735. PMID: 20664902
Kanaji S, Kanaji T, Honda M, Nakazato S, Wakayama K, Tabata Y, Shibata S, Gondo H, Nakamura I, Node K, Miura M, Miyahara M, Okamura T, Nagumo F, Ohta S, Izuhara K
Int J Hematol 2009 Jan;89(1):71-75. Epub 2008 Dec 4 doi: 10.1007/s12185-008-0210-4. PMID: 19052695

Clinical prediction guides

Bouchard BA, Chapin J, Brummel-Ziedins KE, Durda P, Key NS, Tracy PB
Blood 2015 Jun 4;125(23):3647-50. Epub 2015 Apr 20 doi: 10.1182/blood-2014-07-589580. PMID: 25896652Free PMC Article
Nuzzo F, Bulato C, Nielsen BI, Lee K, Wielders SJ, Simioni P, Key NS, Castoldi E
Haemophilia 2015 Mar;21(2):241-8. Epub 2014 Dec 3 doi: 10.1111/hae.12554. PMID: 25470420
Naderi M, Tabibian S, Alizadeh S, Hosseini S, Zaker F, Bamedi T, Shamsizadeh M, Dorgalaleh A
Acta Haematol 2015;133(2):148-54. Epub 2014 Sep 26 doi: 10.1159/000363598. PMID: 25277779
Shakhnovich V, Daniel J, Wicklund B, Kearns G, Neville K
Haemophilia 2013 Mar;19(2):251-5. Epub 2012 Nov 23 doi: 10.1111/hae.12045. PMID: 23173558
Zheng W, Liu Y, Luo Y, Chen Z, Wang Y, Zhang L, Gao G, Yao Z
Thromb Haemost 2010 Sep;104(3):536-43. Epub 2010 Jul 20 doi: 10.1160/TH09-10-0735. PMID: 20664902

Recent systematic reviews

Spiliopoulos D, Kadir RA
Blood Coagul Fibrinolysis 2016 Apr;27(3):237-41. doi: 10.1097/MBC.0000000000000407. PMID: 26376169
Kulkarni BP, Nair SB, Vijapurkar M, Mota L, Shanbhag S, Ali S, Shetty SD, Ghosh K
PLoS One 2014;9(9):e108683. Epub 2014 Oct 2 doi: 10.1371/journal.pone.0108683. PMID: 25275492Free PMC Article
Girolami A, Ruzzon E, Tezza F, Scandellari R, Vettore S, Girolami B
Haemophilia 2006 Jul;12(4):345-51. doi: 10.1111/j.1365-2516.2006.01299.x. PMID: 16834733
Rey E, Kahn SR, David M, Shrier I
Lancet 2003 Mar 15;361(9361):901-8. doi: 10.1016/S0140-6736(03)12771-7. PMID: 12648968
Streiff MB, Ness PM
Transfusion 2002 Jan;42(1):18-26. PMID: 11896308

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