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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
Source: HPO
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).
SNOMED CT: Hereditary factor V deficiency disease (88776002); Parahemophilia (88776002); Hereditary hypoproaccelerinemia (88776002); Owren's disease (88776002); AC globulin deficiency (88776002); Factor V deficiency (4320005)
 
Gene (location): F5 (1q24.2)
OMIM®: 227400
HPO: HP:0003225
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 venous 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 a heterozygous factor V Leiden mutation has at most a modest effect on recurrence risk after initial treatment of a first VTE. Heterozygosity for factor V Leiden is associated with a two- to threefold increase in relative risk for pregnancy loss, and possibly other pregnancy complications such as preeclampsia, fetal growth retardation, and placental abruption. The clinical expression of factor V Leiden thrombophilia is influenced by: The number of factor V Leiden alleles (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 antibodies, hyperhomocysteinemia, high factor VIII levels, malignancy; and Circumstantial risk factors: travel, central venous catheters, pregnancy, oral contraceptive use, hormone replacement therapy (HRT), selective estrogen receptor modulators (SERMs), organ transplantation, advancing age, and surgery. [from GeneReviews]
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.  http://ghr.nlm.nih.gov/condition/factor-v-deficiency

Clinical features

Bruising susceptibility
MedGen UID:
8524
Concept ID:
C0013491
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Menorrhagia
MedGen UID:
44358
Concept ID:
C0025323
Pathologic Function
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Bruising susceptibility
MedGen UID:
8524
Concept ID:
C0013491
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in thenose.
Factor V deficiency
MedGen UID:
4633
Concept ID:
C0015499
Disease or Syndrome
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 venous 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 a heterozygous factor V Leiden mutation has at most a modest effect on recurrence risk after initial treatment of a first VTE. Heterozygosity for factor V Leiden is associated with a two- to threefold increase in relative risk for pregnancy loss, and possibly other pregnancy complications such as preeclampsia, fetal growth retardation, and placental abruption. The clinical expression of factor V Leiden thrombophilia is influenced by: The number of factor V Leiden alleles (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 antibodies, hyperhomocysteinemia, high factor VIII levels, malignancy; and Circumstantial risk factors: travel, central venous catheters, pregnancy, oral contraceptive use, hormone replacement therapy (HRT), selective estrogen receptor modulators (SERMs), organ transplantation, advancing age, and surgery.
Menorrhagia
MedGen UID:
44358
Concept ID:
C0025323
Pathologic Function
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Prolonged bleeding time
MedGen UID:
56231
Concept ID:
C0151529
Finding
Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.
Prolonged whole-blood clotting time
MedGen UID:
488780
Concept ID:
C0151563
Finding
An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.
Prolonged partial thromboplastin time
MedGen UID:
66815
Concept ID:
C0240671
Finding
Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.
Tendency to bleed
MedGen UID:
264316
Concept ID:
C1458140
Pathologic Function
Normally, if you get hurt, your body forms a blood clot to stop the bleeding. For blood to clot, your body needs cells called platelets and proteins known as clotting factors. If you have a bleeding disorder, you either do not have enough platelets or clotting factors or they don't work the way they should. . Bleeding disorders can be the result of other diseases, such as severe liver disease. They can also be inherited. Hemophilia is an inherited bleeding disorder. Bleeding disorders can also be a side effect of medicines.
Menorrhagia
MedGen UID:
44358
Concept ID:
C0025323
Pathologic Function
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in thenose.
Bruising susceptibility
MedGen UID:
8524
Concept ID:
C0013491
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

Term Hierarchy

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

Conditions with this feature

Factor V deficiency
MedGen UID:
4633
Concept ID:
C0015499
Disease or Syndrome
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 venous 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 a heterozygous factor V Leiden mutation has at most a modest effect on recurrence risk after initial treatment of a first VTE. Heterozygosity for factor V Leiden is associated with a two- to threefold increase in relative risk for pregnancy loss, and possibly other pregnancy complications such as preeclampsia, fetal growth retardation, and placental abruption. The clinical expression of factor V Leiden thrombophilia is influenced by: The number of factor V Leiden alleles (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 antibodies, hyperhomocysteinemia, high factor VIII levels, malignancy; and Circumstantial risk factors: travel, central venous catheters, pregnancy, oral contraceptive use, hormone replacement therapy (HRT), selective estrogen receptor modulators (SERMs), organ transplantation, advancing age, and surgery.
Combined deficiency of factor V and factor VIII, with normal protein C and protein C inhibitor
MedGen UID:
346462
Concept ID:
C1856882
Disease or Syndrome
Combined deficiency of factor V and factor VIII, 1
MedGen UID:
384006
Concept ID:
C1856883
Disease or Syndrome
Combined deficiency of factor V (612309) and factor VIII (300841) is characterized by bleeding symptoms similar to those in hemophilia (306700) or parahemophilia (227400), caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by Zhang and Ginsburg, 2004). Genetic Heterogeneity of Combined Deficiency of Factor V and Factor VIII Another form of combined deficiency of factor V and factor VII (F5F8D2; 613625) is caused by mutation in the MCFD2 gene (607788) on chromosome 2.
Factor v and factor viii, combined deficiency of, 2
MedGen UID:
462239
Concept ID:
C3150889
Disease or Syndrome
Combined deficiency of factor V (612309) and factor VIII (300841) is characterized by bleeding symptoms similar to those in hemophilia (306700) or parahemophilia (227400), caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by Zhang and Ginsburg, 2004).

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

Leung AK, Ng GW, Sin KC, Au SY, Lai KY, Lee KL, Law KI
Hong Kong Med J 2015 Apr;21(2):175-8. PMID: 25904567
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
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. [Epub ahead of print] PMID: 23173558
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. [Epub ahead of print] PMID: 21292261
Foster KN, Kim H, Potter K, Matthews MR, Pressman M, Caruso DM
J Burn Care Res 2010 Mar-Apr;31(2):353-60. doi: 10.1097/BCR.0b013e3181d0f5b4. PMID: 20182366

Diagnosis

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. [Epub ahead of print] PMID: 25470420
Nuzzo F, Paraboschi EM, Straniero L, Pavlova A, Duga S, Castoldi E
Haemophilia 2015 Jan;21(1):140-7. Epub 2014 Nov 30 doi: 10.1111/hae.12536. [Epub ahead of print] PMID: 25438872
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. [Epub ahead of print] PMID: 25277779
Thalji N, Camire RM
Semin Thromb Hemost 2013 Sep;39(6):607-12. Epub 2013 Jul 26 doi: 10.1055/s-0033-1349224. [Epub ahead of print] PMID: 23893775
Lippi G, Favaloro EJ, Montagnana M, Manzato F, Guidi GC, Franchini M
Blood Coagul Fibrinolysis 2011 Apr;22(3):160-6. doi: 10.1097/MBC.0b013e3283424883. PMID: 21245750

Therapy

Rouzi AA, Qari MH, Ardawi MS
Clin Exp Obstet Gynecol 2015;42(3):384-5. PMID: 26152018
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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 25277779
Stalnaker M, Esquivel P
J Pediatr Adolesc Gynecol 2015 Feb;28(1):e9-12. Epub 2014 Mar 27 doi: 10.1016/j.jpag.2014.03.007. [Epub ahead of print] PMID: 25256869
Nuzzo F, Radu C, Baralle M, Spiezia L, Hackeng TM, Simioni P, Castoldi E
Blood 2013 Nov 28;122(23):3825-31. Epub 2013 Oct 1 doi: 10.1182/blood-2013-04-499657. [Epub ahead of print] PMID: 24085767

Prognosis

Leung AK, Ng GW, Sin KC, Au SY, Lai KY, Lee KL, Law KI
Hong Kong Med J 2015 Apr;21(2):175-8. PMID: 25904567
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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 20664902

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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

Recent systematic reviews

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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