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Factor VIII and Factor IX, combined deficiency of(FMFD II; F8F9D)

MedGen UID:
341994
•Concept ID:
C1851376
•
Disease or Syndrome
Synonym: FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY II
 
Monarch Initiative: MONDO:0007597
OMIM®: 134510

Clinical features

From HPO
Reduced factor IX activity
MedGen UID:
868754
•Concept ID:
C4023159
•
Finding
Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.
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

Treatment of inherited platelet disorders.
Seligsohn U
Haemophilia 2012 Jul;18 Suppl 4:161-5. doi: 10.1111/j.1365-2516.2012.02842.x. PMID: 22726101
Orthopedic management of hemophilia.
Heyworth BE, Su EP, Figgie MP, Acharya SS, Sculco TP
Am J Orthop (Belle Mead NJ) 2005 Oct;34(10):479-86. PMID: 16304795
Prenatal diagnosis of hemoglobinopathies by DNA analysis.
Boehm C, Kazazian HH Jr
Crit Rev Oncol Hematol 1985;4(2):155-67. doi: 10.1016/s1040-8428(85)80014-7. PMID: 2998637

Recent clinical studies

Etiology

A Review of Factor VIII and Factor IX Assay Methods for Monitoring Extended Half-Life Products in Hemophilia A and B.
Abraham S, Duncan EM
Methods Mol Biol 2023;2663:569-588. doi: 10.1007/978-1-0716-3175-1_37. PMID: 37204737
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 inherited platelet disorders.
Seligsohn U
Haemophilia 2012 Jul;18 Suppl 4:161-5. doi: 10.1111/j.1365-2516.2012.02842.x. PMID: 22726101
Pregnancy and rare bleeding disorders.
Kadir R, Chi C, Bolton-Maggs P
Haemophilia 2009 Sep;15(5):990-1005. Epub 2009 Feb 27 doi: 10.1111/j.1365-2516.2009.01984.x. PMID: 19298378
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

Hemophilia A and factor V deficiency in a girl with Turner syndrome: a case report.
Al Khudari R, Batesh D, Habash R, Hamdn O
J Med Case Rep 2023 Nov 18;17(1):480. doi: 10.1186/s13256-023-04215-2. PMID: 37978530Free PMC Article
A Review of Factor VIII and Factor IX Assay Methods for Monitoring Extended Half-Life Products in Hemophilia A and B.
Abraham S, Duncan EM
Methods Mol Biol 2023;2663:569-588. doi: 10.1007/978-1-0716-3175-1_37. PMID: 37204737
Combined coagulation factor VIII and factor IX deficiency (CDF8F9) in a patient from Lithuania.
Ivaškevičius V, Pezeshkpoor B, Biswas A, Goldmann G, Horneff S, Gimbutyte M, Malciute L, Jurgutis R, Oldenburg J
Hamostaseologie 2016 Nov 8;36(Suppl. 2):S29-S33. PMID: 27824213
Treatment of inherited platelet disorders.
Seligsohn U
Haemophilia 2012 Jul;18 Suppl 4:161-5. doi: 10.1111/j.1365-2516.2012.02842.x. PMID: 22726101
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

Therapy

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 inherited platelet disorders.
Seligsohn U
Haemophilia 2012 Jul;18 Suppl 4:161-5. doi: 10.1111/j.1365-2516.2012.02842.x. PMID: 22726101
Pregnancy and rare bleeding disorders.
Kadir R, Chi C, Bolton-Maggs P
Haemophilia 2009 Sep;15(5):990-1005. Epub 2009 Feb 27 doi: 10.1111/j.1365-2516.2009.01984.x. PMID: 19298378
Gene therapy for hereditary hematological disorders.
Herzog RW, Hagstrom JN
Am J Pharmacogenomics 2001;1(2):137-44. doi: 10.2165/00129785-200101020-00006. PMID: 12174674
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

Prognosis

Coronary angiography with or without percutaneous coronary intervention in patients with hemophilia-Systematic review.
Boehnel C, Rickli H, Graf L, Maeder MT
Catheter Cardiovasc Interv 2018 Jul;92(1):1-15. Epub 2017 Sep 12 doi: 10.1002/ccd.27255. PMID: 28895303
Orthopedic management of hemophilia.
Heyworth BE, Su EP, Figgie MP, Acharya SS, Sculco TP
Am J Orthop (Belle Mead NJ) 2005 Oct;34(10):479-86. PMID: 16304795
Effect of low- and intermediate-purity clotting factor therapy on progression of human immunodeficiency virus infection in congenital clotting disorders. Transfusion Safety Study Group.
Gjerset GF, Pike MC, Mosley JW, Hassett J, Fletcher MA, Donegan E, Parker JW, Counts RB, Zhou Y, Kasper CK
Blood 1994 Sep 1;84(5):1666-71. PMID: 7915149
Paradoxic effect of multiple mild coagulation factor deficiencies on the prothrombin time and activated partial thromboplastin time.
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
Prenatal diagnosis of hemoglobinopathies by DNA analysis.
Boehm C, Kazazian HH Jr
Crit Rev Oncol Hematol 1985;4(2):155-67. doi: 10.1016/s1040-8428(85)80014-7. PMID: 2998637

Clinical prediction guides

Factor VIII and IX deficiencies related to acquired inhibitors in a patient with chronic hepatitis C virus infection receiving treatment with pegylated interferon plus ribavirin.
Campos-de-Magalhães M, Eduardo Brandão-Mello C, Lúcia Elias Pires M, Cecília da Fonseca Salgado M, Barcelo de Brito S, José de Almeida A
Hematology 2011 Mar;16(2):80-5. doi: 10.1179/102453311X12902908412156. PMID: 21418737
The factor VIII/von Willebrand factor ratio discriminates between reduced synthesis and increased clearance of von Willebrand factor.
Eikenboom JC, Castaman G, Kamphuisen PW, Rosendaal FR, Bertina RM
Thromb Haemost 2002 Feb;87(2):252-7. PMID: 11859851
Combined factor VIII and IX deficiency in a family.
Shetty S, Ghosh K, Parekh S, Mohanty D
Clin Lab Haematol 2001 Jun;23(3):201-4. doi: 10.1046/j.1365-2257.2001.00381.x. PMID: 11553064
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
Prenatal diagnosis of hemoglobinopathies by DNA analysis.
Boehm C, Kazazian HH Jr
Crit Rev Oncol Hematol 1985;4(2):155-67. doi: 10.1016/s1040-8428(85)80014-7. PMID: 2998637

Recent systematic reviews

Coronary angiography with or without percutaneous coronary intervention in patients with hemophilia-Systematic review.
Boehnel C, Rickli H, Graf L, Maeder MT
Catheter Cardiovasc Interv 2018 Jul;92(1):1-15. Epub 2017 Sep 12 doi: 10.1002/ccd.27255. PMID: 28895303

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