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Factor VIII deficiency

MedGen UID:
488140
•Concept ID:
C3494187
•
Disease or Syndrome
Synonym: AUTOSOMAL HEMOPHILIA A
SNOMED CT: Factor VIII deficiency (234440005)
 
OMIM®: 134500

Clinical features

From HPO
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.
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

Professional guidelines

PubMed

The changing treatment landscape in haemophilia: from standard half-life clotting factor concentrates to gene editing.
Mancuso ME, Mahlangu JN, Pipe SW
Lancet 2021 Feb 13;397(10274):630-640. Epub 2021 Jan 15 doi: 10.1016/S0140-6736(20)32722-7. PMID: 33460559
Current challenges in the management of hemophilia.
Bauer KA
Am J Manag Care 2015 Mar;21(6 Suppl):S112-22. PMID: 26168206
Cryoprecipitate: an outmoded treatment?
Yang L, Stanworth S, Baglin T
Transfus Med 2012 Oct;22(5):315-20. doi: 10.1111/j.1365-3148.2012.01181.x. PMID: 22994448

Recent clinical studies

Etiology

A prospective, multicenter, open-label phase III study of emicizumab prophylaxis in patients with acquired hemophilia A.
Shima M, Amano K, Ogawa Y, Yoneyama K, Ozaki R, Kobayashi R, Sakaida E, Saito M, Okamura T, Ito T, Hattori N, Higasa S, Suzuki N, Seki Y, Nogami K
J Thromb Haemost 2023 Mar;21(3):534-545. Epub 2022 Dec 22 doi: 10.1016/j.jtha.2022.10.004. PMID: 36696195
Utilization of Emicizumab in Acquired Factor VIII Deficiency.
Hess KJ, Patel P, Joshi AM, Kotkiewicz A
Am J Case Rep 2020 May 7;21:e922326. doi: 10.12659/AJCR.922326. PMID: 32376817Free PMC Article
Congenital factor V and VIII deficiency in women: a systematic review of literature and report of two new cases.
Spiliopoulos D, Kadir RA
Blood Coagul Fibrinolysis 2016 Apr;27(3):237-41. doi: 10.1097/MBC.0000000000000407. PMID: 26376169
Factor VIII deficiency does not protect against atherosclerosis.
Biere-Rafi S, Tuinenburg A, Haak BW, Peters M, Huijgen R, De Groot E, Verhamme P, Peerlinck K, Visseren FL, Kruip MJ, Laros-Van Gorkom BA, Gerdes VE, Buller HR, Schutgens RE, Kamphuisen PW
J Thromb Haemost 2012 Jan;10(1):30-7. doi: 10.1111/j.1538-7836.2011.04499.x. PMID: 21972848
Hemostasis and atherosclerosis.
Warkentin TE
Can J Cardiol 1995 May;11 Suppl C:29C-34C. PMID: 7750046

Diagnosis

Hemophilia A (Factor VIII Deficiency).
Seaman CD, Xavier F, Ragni MV
Hematol Oncol Clin North Am 2021 Dec;35(6):1117-1129. Epub 2021 Aug 10 doi: 10.1016/j.hoc.2021.07.006. PMID: 34389199
Current challenges in the management of hemophilia.
Bauer KA
Am J Manag Care 2015 Mar;21(6 Suppl):S112-22. PMID: 26168206
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
Inherited bleeding disorders in older women.
Kadir RA, Sharief LA, Lee CA
Maturitas 2012 May;72(1):35-41. Epub 2012 Mar 22 doi: 10.1016/j.maturitas.2012.02.008. PMID: 22445218
Diagnosis of factor VIII deficiency.
Verbruggen B, Meijer P, Novákova I, Van Heerde W
Haemophilia 2008 Jul;14 Suppl 3:76-82. doi: 10.1111/j.1365-2516.2008.01715.x. PMID: 18510526

Therapy

A prospective, multicenter, open-label phase III study of emicizumab prophylaxis in patients with acquired hemophilia A.
Shima M, Amano K, Ogawa Y, Yoneyama K, Ozaki R, Kobayashi R, Sakaida E, Saito M, Okamura T, Ito T, Hattori N, Higasa S, Suzuki N, Seki Y, Nogami K
J Thromb Haemost 2023 Mar;21(3):534-545. Epub 2022 Dec 22 doi: 10.1016/j.jtha.2022.10.004. PMID: 36696195
Update on clinical gene therapy for hemophilia.
Perrin GQ, Herzog RW, Markusic DM
Blood 2019 Jan 31;133(5):407-414. Epub 2018 Dec 17 doi: 10.1182/blood-2018-07-820720. PMID: 30559260Free 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
Current challenges in the management of hemophilia.
Bauer KA
Am J Manag Care 2015 Mar;21(6 Suppl):S112-22. PMID: 26168206
Cryoprecipitate: an outmoded treatment?
Yang L, Stanworth S, Baglin T
Transfus Med 2012 Oct;22(5):315-20. doi: 10.1111/j.1365-3148.2012.01181.x. PMID: 22994448

Prognosis

Decreased platelet surface phosphatidylserine predicts increased bleeding in patients with severe factor VIII deficiency.
Croteau SE, Frelinger AL 3rd, Gerrits AJ, Michelson AD
J Thromb Haemost 2021 Apr;19(4):976-982. Epub 2021 Mar 7 doi: 10.1111/jth.15223. PMID: 33370471
Utilization of Emicizumab in Acquired Factor VIII Deficiency.
Hess KJ, Patel P, Joshi AM, Kotkiewicz A
Am J Case Rep 2020 May 7;21:e922326. doi: 10.12659/AJCR.922326. PMID: 32376817Free PMC Article
Bilateral cranial hemophilic pseudotumor.
Xu Q, Wu P, Feng Y
J Craniofac Surg 2014 Jul;25(4):e369-71. doi: 10.1097/SCS.0000000000000856. PMID: 25006951
Factor VIII deficiency does not protect against atherosclerosis.
Biere-Rafi S, Tuinenburg A, Haak BW, Peters M, Huijgen R, De Groot E, Verhamme P, Peerlinck K, Visseren FL, Kruip MJ, Laros-Van Gorkom BA, Gerdes VE, Buller HR, Schutgens RE, Kamphuisen PW
J Thromb Haemost 2012 Jan;10(1):30-7. doi: 10.1111/j.1538-7836.2011.04499.x. PMID: 21972848
Inhibitors of propagation of coagulation (factors VIII, IX and XI): a review of current therapeutic practice.
Franchini M, Mannucci PM
Br J Clin Pharmacol 2011 Oct;72(4):553-62. doi: 10.1111/j.1365-2125.2010.03899.x. PMID: 21204915Free PMC Article

Clinical prediction guides

Combined Factor V and VIII Deficiency with LMAN1 Mutation: A Report of 3 Saudi Siblings.
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
Decreased platelet surface phosphatidylserine predicts increased bleeding in patients with severe factor VIII deficiency.
Croteau SE, Frelinger AL 3rd, Gerrits AJ, Michelson AD
J Thromb Haemost 2021 Apr;19(4):976-982. Epub 2021 Mar 7 doi: 10.1111/jth.15223. PMID: 33370471
Update on clinical gene therapy for hemophilia.
Perrin GQ, Herzog RW, Markusic DM
Blood 2019 Jan 31;133(5):407-414. Epub 2018 Dec 17 doi: 10.1182/blood-2018-07-820720. PMID: 30559260Free PMC Article
Is haemophilia B less severe than haemophilia A?
Mannucci PM, Franchini M
Haemophilia 2013 Jul;19(4):499-502. Epub 2013 Mar 21 doi: 10.1111/hae.12133. PMID: 23517072
Combined Factor V and Factor VIII Deficiency.
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

Recent systematic reviews

Acquired haemophilia A in the postpartum and risk of relapse in subsequent pregnancies: A systematic literature review.
Dewarrat N, Gavillet M, Angelillo-Scherrer A, Naveiras O, Grandoni F, Tsakiris DA, Alberio L, Blum S
Haemophilia 2021 Mar;27(2):199-210. Epub 2021 Feb 6 doi: 10.1111/hae.14233. PMID: 33550699
Immunoadsorption for the Treatment of Acquired Hemophilia: New Observational Data, Systematic Review, and Meta-Analysis.
Esteves Pereira M, Bocksrucker C, Kremer Hovinga JA, Mueller M, Daskalakis M, Mansouri Taleghani B, Nagler M
Transfus Med Rev 2021 Apr;35(2):125-134. Epub 2021 Jan 12 doi: 10.1016/j.tmrv.2021.01.001. PMID: 33518429
Pseudotumour of haemophilia in jawbones: A systematic review and report of two cases managed conservatively.
Pai N, Dhaimade PA, S C, Vaghela J, Mehta L
Haemophilia 2020 May;26(3):409-421. Epub 2020 Apr 20 doi: 10.1111/hae.13984. PMID: 32311801
Congenital factor V and VIII deficiency in women: a systematic review of literature and report of two new cases.
Spiliopoulos D, Kadir RA
Blood Coagul Fibrinolysis 2016 Apr;27(3):237-41. doi: 10.1097/MBC.0000000000000407. PMID: 26376169

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