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Combined deficiency of factor V and factor VIII

MedGen UID:
384006
•Concept ID:
C1856883
•
Disease or Syndrome
Synonyms: Combined Deficiency of Factor V and Factor VIII; F5F8D; Factor V And Factor VIII, Combined Deficiency Of
SNOMED CT: Combined deficiency of factor V and factor VIII (715559004); Factor V and factor VIII combined deficiency (715559004); Familial multiple coagulation factor deficiency (715559004)
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).
Autosomal recessive inheritance (Orphanet)
 
Related genes: MCFD2, LMAN1
 
Monarch Initiative: MONDO:0018175
Orphanet: ORPHA35909

Definition

An inherited bleeding disorder caused by the reduction in activity and antigen levels of both factor V and factor VIII with manifestation of mild-to-moderate bleeding symptoms. Caused by mutations either in the LMAN1 gene (chromosome 18; q21) or in the MCFD2 gene (chromosome 2). Transmission is autosomal recessive. [from SNOMEDCT_US]

Professional guidelines

PubMed

Genotype and phenotype report on patients with combined deficiency of factor V and factor VIII in Iran.
Karimi M, Cairo A, Safarpour MM, Haghpanah S, Ekramzadeh M, Afrasiabi A, Shahriari M, Menegatti M
Blood Coagul Fibrinolysis 2014 Jun;25(4):360-3. doi: 10.1097/MBC.0000000000000046. PMID: 24389588
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
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

Combined deficiency of factor V and factor VIII: management during cardiothoracic surgery.
Howard C, Lipe B
Blood Coagul Fibrinolysis 2017 Apr;28(3):267-268. doi: 10.1097/MBC.0000000000000574. PMID: 27273144
Successful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in LMAN1.
Patel AJ, Liu HH, Lager RA, Malkovska V, Zhang B
Haemophilia 2013 Jul;19(4):607-10. Epub 2013 Apr 5 doi: 10.1111/hae.12128. PMID: 23557496Free PMC Article

Diagnosis

Successful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in LMAN1.
Patel AJ, Liu HH, Lager RA, Malkovska V, Zhang B
Haemophilia 2013 Jul;19(4):607-10. Epub 2013 Apr 5 doi: 10.1111/hae.12128. PMID: 23557496Free PMC Article
A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia.
Segal A, Zivelin A, Rosenberg N, Ginsburg D, Shpilberg O, Seligsohn U
Blood Coagul Fibrinolysis 2004 Jan;15(1):99-102. doi: 10.1097/00001721-200401000-00016. PMID: 15166951
Combined deficiency of factor V and factor VIII. A report of another case.
Girolami A, Violante N, Cella G, Patrassi G
Blut 1976 Jun;32(6):415-22. doi: 10.1007/BF01013881. PMID: 1276481

Prognosis

A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia.
Segal A, Zivelin A, Rosenberg N, Ginsburg D, Shpilberg O, Seligsohn U
Blood Coagul Fibrinolysis 2004 Jan;15(1):99-102. doi: 10.1097/00001721-200401000-00016. PMID: 15166951

Clinical prediction guides

Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
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
A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia.
Segal A, Zivelin A, Rosenberg N, Ginsburg D, Shpilberg O, Seligsohn U
Blood Coagul Fibrinolysis 2004 Jan;15(1):99-102. doi: 10.1097/00001721-200401000-00016. PMID: 15166951
Normal titer of functional and immunoreactive protein-C inhibitor in plasma of patients with congenital combined deficiency of factor V and factor VIII.
Suzuki K, Nishioka J, Hashimoto S, Kamiya T, Saito H
Blood 1983 Dec;62(6):1266-70. PMID: 6315113

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