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Factor VII and Factor VIII, combined deficiency of(FMFD IV; MCFD4)

MedGen UID:
341995
•Concept ID:
C1851377
•
Disease or Syndrome
Synonyms: FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY IV; MULTIPLE COAGULATION FACTOR DEFICIENCY IV
 
Monarch Initiative: MONDO:0007595
OMIM®: 134430

Clinical features

From HPO
Intestinal bleeding
MedGen UID:
75632
•Concept ID:
C0267373
•
Finding
Bleeding from the intestines.
See: Feature record | Search on this feature
Reduced factor VII activity
MedGen UID:
892851
•Concept ID:
C4024722
•
Finding
Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

International recommendations on the diagnosis and treatment of acquired hemophilia A.
Tiede A, Collins P, Knoebl P, Teitel J, Kessler C, Shima M, Di Minno G, d'Oiron R, Salaj P, Jiménez-Yuste V, Huth-Kühne A, Giangrande P
Haematologica 2020 Jul;105(7):1791-1801. Epub 2020 May 7 doi: 10.3324/haematol.2019.230771. PMID: 32381574Free PMC Article
Diagnosis, clinical manifestations and management of rare bleeding disorders in Iran.
Dorgalaleh A, Alavi SE, Tabibian S, Soori S, Moradi E, Bamedi T, Asadi M, Jalalvand M, Shamsizadeh M
Hematology 2017 May;22(4):224-230. Epub 2016 Nov 28 doi: 10.1080/10245332.2016.1263007. PMID: 27894217
Treatment of rare factor deficiencies in 2016.
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

Recent clinical studies

Etiology

The use of prophylaxis in the treatment of rare bleeding disorders.
Shapiro A
Thromb Res 2020 Dec;196:590-602. Epub 2019 Jul 19 doi: 10.1016/j.thromres.2019.07.014. PMID: 31420204
Management of rare coagulation disorders in 2018.
Jain S, Acharya SS
Transfus Apher Sci 2018 Dec;57(6):705-712. Epub 2018 Oct 30 doi: 10.1016/j.transci.2018.10.009. PMID: 30392819
Emicizumab Prophylaxis in Hemophilia A with Inhibitors.
Oldenburg J, Mahlangu JN, Kim B, Schmitt C, Callaghan MU, Young G, Santagostino E, Kruse-Jarres R, Negrier C, Kessler C, Valente N, Asikanius E, Levy GG, Windyga J, Shima M
N Engl J Med 2017 Aug 31;377(9):809-818. Epub 2017 Jul 10 doi: 10.1056/NEJMoa1703068. PMID: 28691557
Treatment of rare factor deficiencies in 2016.
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
Inherited bleeding disorders.
Blanchette VS, Sparling C, Turner C
Baillieres Clin Haematol 1991 Apr;4(2):291-332. doi: 10.1016/s0950-3536(05)80162-3. PMID: 1912663

Diagnosis

International recommendations on the diagnosis and treatment of acquired hemophilia A.
Tiede A, Collins P, Knoebl P, Teitel J, Kessler C, Shima M, Di Minno G, d'Oiron R, Salaj P, Jiménez-Yuste V, Huth-Kühne A, Giangrande P
Haematologica 2020 Jul;105(7):1791-1801. Epub 2020 May 7 doi: 10.3324/haematol.2019.230771. PMID: 32381574Free PMC Article
Management of rare coagulation disorders in 2018.
Jain S, Acharya SS
Transfus Apher Sci 2018 Dec;57(6):705-712. Epub 2018 Oct 30 doi: 10.1016/j.transci.2018.10.009. PMID: 30392819
Diagnosis, clinical manifestations and management of rare bleeding disorders in Iran.
Dorgalaleh A, Alavi SE, Tabibian S, Soori S, Moradi E, Bamedi T, Asadi M, Jalalvand M, Shamsizadeh M
Hematology 2017 May;22(4):224-230. Epub 2016 Nov 28 doi: 10.1080/10245332.2016.1263007. PMID: 27894217
Rare coagulation disorders: fibrinogen, factor VII and factor XIII.
de Moerloose P, Schved JF, Nugent D
Haemophilia 2016 Jul;22 Suppl 5:61-5. doi: 10.1111/hae.12965. PMID: 27405678
Therapeutic challenges in acquired factor VIII deficiency.
Collins PW
Hematology Am Soc Hematol Educ Program 2012;2012:369-74. doi: 10.1182/asheducation-2012.1.369. PMID: 23233606

Therapy

International recommendations on the diagnosis and treatment of acquired hemophilia A.
Tiede A, Collins P, Knoebl P, Teitel J, Kessler C, Shima M, Di Minno G, d'Oiron R, Salaj P, Jiménez-Yuste V, Huth-Kühne A, Giangrande P
Haematologica 2020 Jul;105(7):1791-1801. Epub 2020 May 7 doi: 10.3324/haematol.2019.230771. PMID: 32381574Free PMC Article
Evaluating the safety of emicizumab in patients with hemophilia A.
Langer AL, Etra A, Aledort L
Expert Opin Drug Saf 2018 Dec;17(12):1233-1237. Epub 2018 Nov 28 doi: 10.1080/14740338.2019.1551356. PMID: 30462521
Emicizumab Prophylaxis in Hemophilia A with Inhibitors.
Oldenburg J, Mahlangu JN, Kim B, Schmitt C, Callaghan MU, Young G, Santagostino E, Kruse-Jarres R, Negrier C, Kessler C, Valente N, Asikanius E, Levy GG, Windyga J, Shima M
N Engl J Med 2017 Aug 31;377(9):809-818. Epub 2017 Jul 10 doi: 10.1056/NEJMoa1703068. PMID: 28691557
Rare coagulation disorders: fibrinogen, factor VII and factor XIII.
de Moerloose P, Schved JF, Nugent D
Haemophilia 2016 Jul;22 Suppl 5:61-5. doi: 10.1111/hae.12965. PMID: 27405678
Therapeutic challenges in acquired factor VIII deficiency.
Collins PW
Hematology Am Soc Hematol Educ Program 2012;2012:369-74. doi: 10.1182/asheducation-2012.1.369. PMID: 23233606

Prognosis

A low-dose rituximab regimen for first-line treatment of acquired haemophilia A.
Hunt S, Robertson J, Conn J, Casey J, Royle J, Collins J, Hourigan M, Richmond J, Yang Wang T, Mills A, Mason J
Eur J Haematol 2022 Jan;108(1):28-33. Epub 2021 Oct 11 doi: 10.1111/ejh.13708. PMID: 34528303
International recommendations on the diagnosis and treatment of acquired hemophilia A.
Tiede A, Collins P, Knoebl P, Teitel J, Kessler C, Shima M, Di Minno G, d'Oiron R, Salaj P, Jiménez-Yuste V, Huth-Kühne A, Giangrande P
Haematologica 2020 Jul;105(7):1791-1801. Epub 2020 May 7 doi: 10.3324/haematol.2019.230771. PMID: 32381574Free PMC Article
Pregnancy-associated acquired haemophilia A: results from the European Acquired Haemophilia (EACH2) registry.
Tengborn L, Baudo F, Huth-Kühne A, Knoebl P, Lévesque H, Marco P, Pellegrini F, Nemes L, Collins P; EACH2 registry contributors
BJOG 2012 Nov;119(12):1529-37. Epub 2012 Aug 20 doi: 10.1111/j.1471-0528.2012.03469.x. PMID: 22901076
Twelve years of experience of acquired hemophilia A: trials and tribulations in South Australia.
Tay L, Duncan E, Singhal D, Al-Qunfoidi R, Coghlan D, Jaksic W, Szabo F, McRae S, Lloyd J
Semin Thromb Hemost 2009 Nov;35(8):769-77. Epub 2010 Feb 18 doi: 10.1055/s-0029-1245109. PMID: 20169513
Spectrum of inherited bleeding disorders in southern Iran, before and after the establishment of comprehensive coagulation laboratory.
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

Clinical prediction guides

The use of prophylaxis in the treatment of rare bleeding disorders.
Shapiro A
Thromb Res 2020 Dec;196:590-602. Epub 2019 Jul 19 doi: 10.1016/j.thromres.2019.07.014. PMID: 31420204
Improved coagulation and haemostasis in haemophilia with inhibitors by combinations of superFactor Va and Factor VIIa.
Bhat V, von Drygalski A, Gale AJ, Griffin JH, Mosnier LO
Thromb Haemost 2016 Mar;115(3):551-61. Epub 2015 Oct 15 doi: 10.1160/TH15-07-0525. PMID: 26466980Free PMC Article
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
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
Twelve years of experience of acquired hemophilia A: trials and tribulations in South Australia.
Tay L, Duncan E, Singhal D, Al-Qunfoidi R, Coghlan D, Jaksic W, Szabo F, McRae S, Lloyd J
Semin Thromb Hemost 2009 Nov;35(8):769-77. Epub 2010 Feb 18 doi: 10.1055/s-0029-1245109. PMID: 20169513
An in vitro analysis of the combination of hemophilia A and factor V(LEIDEN).
van 't Veer C, Golden NJ, Kalafatis M, Simioni P, Bertina RM, Mann KG
Blood 1997 Oct 15;90(8):3067-72. PMID: 9376587

Recent systematic reviews

Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
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

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