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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
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
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: F5
Cytogenetic location: 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 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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  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.  http://ghr.nlm.nih.gov/condition/factor-v-deficiency

Clinical features

Menorrhagia
MedGen UID:
504356
Concept ID:
CN000128
Finding
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Epistaxis
MedGen UID:
776578
Concept ID:
C2228238
Finding
Menorrhagia
MedGen UID:
504356
Concept ID:
CN000128
Finding
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Bruising susceptibility
MedGen UID:
504672
Concept ID:
CN000916
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.
Prolonged bleeding time
MedGen UID:
56231
Concept ID:
C0151529
Finding
Prolonged whole-blood clotting time
MedGen UID:
488780
Concept ID:
C0151563
Finding
Prolonged partial thromboplastin time
MedGen UID:
66815
Concept ID:
C0240671
Finding
An abnormal laboratory test result in which the partial thromboplastin time is found to be greater than the control value. As a possible indicator of coagulopathy, a prolonged partial thromboplastin time (PTT) may occur in a variety of diseases and disorders, both primary and related to treatment.
Epistaxis
MedGen UID:
776578
Concept ID:
C2228238
Finding
Menorrhagia
MedGen UID:
504356
Concept ID:
CN000128
Finding
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Bruising susceptibility
MedGen UID:
504672
Concept ID:
CN000916
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.
Abnormal bleeding
MedGen UID:
504992
Concept ID:
CN001711
Finding
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Reduced factor V activity
MedGen UID:
505488
Concept ID:
CN002913
Finding
Decreased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.

Term Hierarchy

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

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
Kovács KB, Tisza B, Komáromi I, Muszbek L, Bereczky Z
Thromb Haemost 2009 Oct;102(4):787-9. doi: 10.1160/TH-09-04-0272. PMID: 19806267
Song J, Guella I, Kwon KY, Cho H, Park R, Asselta R, Choi JR
Blood Coagul Fibrinolysis 2009 Mar;20(2):150-6. doi: 10.1097/MBC.0b013e32832545db. PMID: 19786944

Diagnosis

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
Mansouritorghabeh H, Sharifi-Hoseini MR, Shahroudian M
Clin Biochem 2012 Mar;45(4-5):356-8. Epub 2012 Jan 8 doi: 10.1016/j.clinbiochem.2011.12.024. [Epub ahead of print] PMID: 22245550
Guella I, Paraboschi EM, van Schalkwyk WA, Asselta R, Duga S
Thromb Haemost 2011 Aug;106(2):296-303. Epub 2011 May 26 doi: 10.1160/TH11-03-0149. [Epub ahead of print] PMID: 21614419
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
Cao L, Wang Z, Li H, Wang W, Zhao X, Zhang W, Ding J, Ruan C
Haemophilia 2011 Jan;17(1):65-9. Epub 2010 Aug 16 doi: 10.1111/j.1365-2516.2010.02369.x. [Epub ahead of print] PMID: 20722745

Therapy

Hoffmann C, Falzone E, Mihai A, Gitz L, Itzhar-Baikian N, Martel-Jacob S, Mercier FJ
Ann Fr Anesth Reanim 2013 Nov;32(11):e163-5. Epub 2013 Oct 23 doi: 10.1016/j.annfar.2013.08.014. [Epub ahead of print] PMID: 24161289
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
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
Kitamura A, Yamashita H, Okumura T, Asahina I
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011 Jul;112(1):e1-3. doi: 10.1016/j.tripleo.2011.03.009. PMID: 21669355
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

Prognosis

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
Mansouritorghabeh H, Sharifi-Hoseini MR, Shahroudian M
Clin Biochem 2012 Mar;45(4-5):356-8. Epub 2012 Jan 8 doi: 10.1016/j.clinbiochem.2011.12.024. [Epub ahead of print] PMID: 22245550
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
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):71-5. Epub 2008 Dec 4 doi: 10.1007/s12185-008-0210-4. [Epub ahead of print] PMID: 19052695

Clinical prediction guides

Hoffmann C, Falzone E, Mihai A, Gitz L, Itzhar-Baikian N, Martel-Jacob S, Mercier FJ
Ann Fr Anesth Reanim 2013 Nov;32(11):e163-5. Epub 2013 Oct 23 doi: 10.1016/j.annfar.2013.08.014. [Epub ahead of print] PMID: 24161289
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
Duckers C, Simioni P, Rosing J, Castoldi E
Br J Haematol 2009 Jun;146(1):17-26. Epub 2009 Apr 27 doi: 10.1111/j.1365-2141.2009.07708.x. [Epub ahead of print] PMID: 19438479

Recent systematic reviews

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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