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Congenital factor V deficiency

MedGen UID:
4633
Concept ID:
C0015499
Disease or Syndrome
Synonyms: Hereditary factor V deficiency disease; LABILE FACTOR DEFICIENCY; OWREN PARAHEMOPHILIA; PARAHEMOPHILIA
SNOMED CT: Hereditary factor V deficiency disease (88776002); Parahemophilia (88776002); Hereditary hypoproaccelerinemia (88776002); Owren's disease (88776002); AC globulin deficiency (88776002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): F5 (1q24.2)
 
Monarch Initiative: MONDO:0009210
OMIM®: 227400
Orphanet: ORPHA326

Definition

Factor V deficiency is a rare autosomal recessive bleeding disorder with variable phenotypic expression (summary by van Wijk et al., 2001). [from OMIM]

Additional description

From MedlinePlus Genetics
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://medlineplus.gov/genetics/condition/factor-v-deficiency

Clinical features

From HPO
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
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.
Prolonged prothrombin time
MedGen UID:
208879
Concept ID:
C0853225
Finding
Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Factor V deficiency
MedGen UID:
1369551
Concept ID:
C4317320
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 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.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
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  
  • CROGVCongenital factor V deficiency
Follow this link to review classifications for Congenital factor V deficiency in Orphanet.

Professional guidelines

PubMed

Passarelli PC, De Angelis P, Pasquantonio G, Manicone PF, Verdugo F, D'Addona A
J Oral Maxillofac Surg 2018 Nov;76(11):2280-2283. Epub 2018 Jun 21 doi: 10.1016/j.joms.2018.06.022. PMID: 30012405
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. PMID: 20722745
Stenbjerg S, Husted S, Mygind K
Scand J Haematol 1975 May;14(4):280-5. doi: 10.1111/j.1600-0609.1975.tb02428.x. PMID: 1153957

Recent clinical studies

Etiology

Fitzsimons MG, Barrett C, Streckenbach S, Bendapudi PK
J Cardiothorac Vasc Anesth 2022 Jan;36(1):242-245. Epub 2021 Feb 12 doi: 10.1053/j.jvca.2021.02.026. PMID: 33744111
Fehdi MA, Lazraq M, Benhamza S, Bensaid A, Miloudi Y, Harrar NE
Pan Afr Med J 2020;36:46. Epub 2020 May 29 doi: 10.11604/pamj.2020.36.46.23561. PMID: 32774622Free PMC Article
Passarelli PC, De Angelis P, Pasquantonio G, Manicone PF, Verdugo F, D'Addona A
J Oral Maxillofac Surg 2018 Nov;76(11):2280-2283. Epub 2018 Jun 21 doi: 10.1016/j.joms.2018.06.022. PMID: 30012405
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
Knöbl P, Lechner K
Baillieres Clin Haematol 1998 Jun;11(2):305-18. doi: 10.1016/s0950-3536(98)80050-4. PMID: 10097809

Diagnosis

Lin HY, Lin CY, Kuo SF, Lin JS, Lin PT, Huang YC, Hsieh HN, Shen MC
Blood Coagul Fibrinolysis 2023 Jan 1;34(1):8-13. Epub 2022 Aug 22 doi: 10.1097/MBC.0000000000001162. PMID: 35946468Free PMC Article
Shirzadi M, Radfar AH, Dehghani M
BMC Pregnancy Childbirth 2022 Dec 8;22(1):915. doi: 10.1186/s12884-022-05273-y. PMID: 36482349Free PMC Article
Tabibian S, Shiravand Y, Shams M, Safa M, Gholami MS, Heydari F, Ahmadi A, Rashidpanah J, Dorgalaleh A
Semin Thromb Hemost 2019 Jul;45(5):523-543. Epub 2019 May 23 doi: 10.1055/s-0039-1687906. PMID: 31121608
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
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

Takemoto K, Hamada O, Kitamura K, Fujiwara N, Miyakawa Y
Medicine (Baltimore) 2019 Apr;98(17):e15259. doi: 10.1097/MD.0000000000015259. PMID: 31027075Free PMC Article
Passarelli PC, De Angelis P, Pasquantonio G, Manicone PF, Verdugo F, D'Addona A
J Oral Maxillofac Surg 2018 Nov;76(11):2280-2283. Epub 2018 Jun 21 doi: 10.1016/j.joms.2018.06.022. PMID: 30012405
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, 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
Knöbl P, Lechner K
Baillieres Clin Haematol 1998 Jun;11(2):305-18. doi: 10.1016/s0950-3536(98)80050-4. PMID: 10097809

Prognosis

Drzymalski DM, Elsayes AH, Ward KR, House M, Manica VS
Transfusion 2019 Jul;59(7):2234-2237. Epub 2019 Apr 29 doi: 10.1111/trf.15322. PMID: 31032969
Levy-Mendelovich S, Barg AA, Rosenberg N, Avishai E, Luboshitz J, Misgav M, Kenet G, Livnat T
Blood Cells Mol Dis 2018 Jul;71:5-10. Epub 2018 Apr 5 doi: 10.1016/j.bcmd.2018.01.002. PMID: 29402705
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
Knöbl P, Lechner K
Baillieres Clin Haematol 1998 Jun;11(2):305-18. doi: 10.1016/s0950-3536(98)80050-4. PMID: 10097809
Schultz SC, Breall J, Hannan R
Cardiology 1997 Jan-Feb;88(1):48-9. doi: 10.1159/000177308. PMID: 8960624

Clinical prediction guides

Lin HY, Lin CY, Kuo SF, Lin JS, Lin PT, Huang YC, Hsieh HN, Shen MC
Blood Coagul Fibrinolysis 2023 Jan 1;34(1):8-13. Epub 2022 Aug 22 doi: 10.1097/MBC.0000000000001162. PMID: 35946468Free PMC Article
Tabibian S, Shiravand Y, Shams M, Safa M, Gholami MS, Heydari F, Ahmadi A, Rashidpanah J, Dorgalaleh A
Semin Thromb Hemost 2019 Jul;45(5):523-543. Epub 2019 May 23 doi: 10.1055/s-0039-1687906. PMID: 31121608
Passarelli PC, De Angelis P, Pasquantonio G, Manicone PF, Verdugo F, D'Addona A
J Oral Maxillofac Surg 2018 Nov;76(11):2280-2283. Epub 2018 Jun 21 doi: 10.1016/j.joms.2018.06.022. PMID: 30012405
Levy-Mendelovich S, Barg AA, Rosenberg N, Avishai E, Luboshitz J, Misgav M, Kenet G, Livnat T
Blood Cells Mol Dis 2018 Jul;71:5-10. Epub 2018 Apr 5 doi: 10.1016/j.bcmd.2018.01.002. PMID: 29402705
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

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