U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Factor 5 and Factor VIII, combined deficiency of, 2(F5F8D2)

MedGen UID:
462239
Concept ID:
C3150889
Disease or Syndrome
Synonym: Factor v and factor viii, combined deficiency of, 2
 
Gene (location): MCFD2 (2p21)
 
Monarch Initiative: MONDO:0013331
OMIM®: 613625

Definition

Combined deficiency of factor V and factor VIII type 2 (F5F8D2) is characterized by bleeding symptoms similar to those in hemophilia (306700) or parahemophilia (227400), caused by single deficiency of FV (612309) or FVIII (300841), 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 F5F8D2 is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by Zhang and Ginsburg, 2004). For a general phenotypic description and a discussion of genetic heterogeneity of F5F8D, see 227300. [from OMIM]

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.
Persistent bleeding after trauma
MedGen UID:
375403
Concept ID:
C1844374
Finding
Reduced factor VIII activity
MedGen UID:
892907
Concept ID:
C4025649
Finding
Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.
Factor V deficiency
MedGen UID:
1369551
Concept ID:
C4317320
Disease or Syndrome
Factor V Leiden thrombophilia is characterized by venous thromboembolism (VTE) manifesting most commonly in adults as deep vein thrombosis (DVT) in the legs or pulmonary embolism. Thrombosis in unusual locations is less common. Factors that predispose to VTE in factor V Leiden thrombophilia include: the number of factor V Leiden variant alleles (homozygotes have a much greater thrombotic risk); family history of VTE; presence of coexisting genetic thrombophilic disorders; acquired thrombophilic disorders (e.g., antiphospholipid antibody syndrome, paroxysmal nocturnal hemoglobinuria, myeloproliferative disorders); and circumstantial risk factors (e.g., pregnancy, malignancy, central venous catheters, travel, combined oral contraceptive use and other combined contraceptives, oral hormone replacement therapy [HRT], obesity, leg injury, and advancing age).

Professional guidelines

PubMed

Solgun HA
Ital J Pediatr 2025 Jan 5;51(1):3. doi: 10.1186/s13052-024-01806-7. PMID: 39757163Free PMC Article
Peyvandi F, Menegatti M
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):663-669. doi: 10.1182/asheducation-2016.1.663. PMID: 27913544Free PMC Article
Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan MU, Avci Z, Ozbek N, Mahlangu J, Haw T, Kaufman RJ, Marchant K, Tuddenham EG, Seligsohn U, Peyvandi F, Ginsburg D
Blood 2008 Jun 15;111(12):5592-600. Epub 2008 Apr 7 doi: 10.1182/blood-2007-10-113951. PMID: 18391077Free PMC Article

Recent clinical studies

Etiology

Solgun HA
Ital J Pediatr 2025 Jan 5;51(1):3. doi: 10.1186/s13052-024-01806-7. PMID: 39757163Free PMC Article
Ma S, Liu B, Du H, Yang F, Han J, Huang X, Zhang M, Ji S, Jiang M
J Thromb Thrombolysis 2024 Dec;57(8):1349-1362. Epub 2024 Sep 2 doi: 10.1007/s11239-024-03034-6. PMID: 39222205Free PMC Article
Khefacha L, Rassas R, Bergaoui H, Mustapha H, Faleh R, Sakly N, Sassi M
J Obstet Gynaecol Res 2022 Mar;48(3):673-681. Epub 2022 Jan 18 doi: 10.1111/jog.15143. PMID: 35042279
Fogarty H, Doyle MM, Campbell R, Keenan C, White B, Ryan K, O'Donnell JS, Slevin J, O'Keeffe D, O'Connell NM, Lavin M
J Obstet Gynaecol 2019 Feb;39(2):271-272. Epub 2018 Apr 18 doi: 10.1080/01443615.2018.1448766. PMID: 29667457
Peyvandi F, Menegatti M
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):663-669. doi: 10.1182/asheducation-2016.1.663. PMID: 27913544Free PMC Article

Diagnosis

Solgun HA
Ital J Pediatr 2025 Jan 5;51(1):3. doi: 10.1186/s13052-024-01806-7. PMID: 39757163Free PMC Article
Yakovleva E, Zhang B
Semin Thromb Hemost 2025 Mar;51(2):116-127. Epub 2024 Aug 29 doi: 10.1055/s-0044-1789019. PMID: 39209292Free PMC Article
Alsheikh S, Alghamdi R, Alqatari A, Alfareed A, AlSaleh M
Am J Case Rep 2022 Sep 18;23:e937312. doi: 10.12659/AJCR.937312. PMID: 36116005Free PMC Article
Peyvandi F, Menegatti M
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):663-669. doi: 10.1182/asheducation-2016.1.663. PMID: 27913544Free PMC Article
Girolami A, Simioni P, Scarano L, Girolami B, Marchiori A
Blood Rev 1998 Mar;12(1):45-51. doi: 10.1016/s0268-960x(98)90029-7. PMID: 9597197

Therapy

Ma S, Liu B, Du H, Yang F, Han J, Huang X, Zhang M, Ji S, Jiang M
J Thromb Thrombolysis 2024 Dec;57(8):1349-1362. Epub 2024 Sep 2 doi: 10.1007/s11239-024-03034-6. PMID: 39222205Free PMC Article
Dobry AS, Ko LN, St John J, Sloan JM, Nigwekar S, Kroshinsky D
JAMA Dermatol 2018 Feb 1;154(2):182-187. doi: 10.1001/jamadermatol.2017.4920. PMID: 29238798Free PMC Article
Peyvandi F, Menegatti M
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):663-669. doi: 10.1182/asheducation-2016.1.663. PMID: 27913544Free PMC Article
Mansouritorghabeh H, Shirdel A
J Thromb Haemost 2016 Feb;14(2):336-9. Epub 2016 Jan 30 doi: 10.1111/jth.13207. PMID: 26599105
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. PMID: 24161289

Prognosis

Dobry AS, Ko LN, St John J, Sloan JM, Nigwekar S, Kroshinsky D
JAMA Dermatol 2018 Feb 1;154(2):182-187. doi: 10.1001/jamadermatol.2017.4920. PMID: 29238798Free PMC Article
Reitter-Pfoertner S, Waldhoer T, Mayerhofer M, Eigenbauer E, Ay C, Mannhalter C, Kyrle PA, Pabinger I
Thromb Haemost 2013 Jan;109(1):79-84. Epub 2012 Nov 22 doi: 10.1160/TH12-05-0361. PMID: 23178976
Karimi M, Haghpanah S, Amirhakimi A, Afrasiabi A, Dehbozorgian J, Nasirabady S
Blood Coagul Fibrinolysis 2009 Dec;20(8):642-5. doi: 10.1097/MBC.0b013e32832f4371. PMID: 19710607
Girolami A, Simioni P, Scarano L, Girolami B, Marchiori A
Blood Rev 1998 Mar;12(1):45-51. doi: 10.1016/s0268-960x(98)90029-7. PMID: 9597197
Burns ER, Goldberg SN, Wenz B
Am J Clin Pathol 1993 Aug;100(2):94-8. doi: 10.1093/ajcp/100.2.94. PMID: 8356955

Clinical prediction guides

Alsheikh S, Alghamdi R, Alqatari A, Alfareed A, AlSaleh M
Am J Case Rep 2022 Sep 18;23:e937312. doi: 10.12659/AJCR.937312. PMID: 36116005Free PMC Article
Reitter-Pfoertner S, Waldhoer T, Mayerhofer M, Eigenbauer E, Ay C, Mannhalter C, Kyrle PA, Pabinger I
Thromb Haemost 2013 Jan;109(1):79-84. Epub 2012 Nov 22 doi: 10.1160/TH12-05-0361. PMID: 23178976
Spreafico M, Peyvandi F
Semin Thromb Hemost 2009 Jun;35(4):390-9. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225761. PMID: 19598067
Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan MU, Avci Z, Ozbek N, Mahlangu J, Haw T, Kaufman RJ, Marchant K, Tuddenham EG, Seligsohn U, Peyvandi F, Ginsburg D
Blood 2008 Jun 15;111(12):5592-600. Epub 2008 Apr 7 doi: 10.1182/blood-2007-10-113951. PMID: 18391077Free PMC Article
Ginsburg D, Nichols WC, Zivelin A, Kaufman RJ, Seligsohn U
Haemophilia 1998 Jul;4(4):677-82. doi: 10.1046/j.1365-2516.1998.440677.x. PMID: 9873813

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...