Factor V Deficiency Associated with Congenital Cardiac Disorder and Intracranial Hemorrage

Özkaya, Halit; Akcan, Abdullah Barış; Aydemir, Gokhan; Akcan, Mediha; Kul, Mustafa

doi:10.1007/s12288-012-0149-8

Cited by 4 publications

(2 citation statements)

References 14 publications

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“…A Taiwanese family with FV deficiency was included, and a novel homozygous mutation of Met1736Val in exon16 was found. Although symptom severity does not correlate with the FV level ( 24 , 25 ), massive postpartum hemorrhage unexpectedly occurred in our female patient. Prophylactic plasma transfusion should be prepared before invasive procedures ( 26 ).…”

Section: Discussioncontrasting

confidence: 62%

A Novel Phenotype of the Factor 5 Gene Mutation (Homozygote Met1736Val and Heterozygote Asp68His) Is Associated With Moderate Factor V Deficiency

et al. 2022

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BackgroundFactor V (FV) deficiency is a rare disease, with a low incidence rate in Asia. Therefore, the F5 mutation in the Taiwanese population is poorly understood.MethodsA Chinese family with FV deficiency was included, and the patient and his family members underwent mutation analysis. Then, patients from Keelung City (Taiwan) were screened for F5 polymorphism; the Chang Gung Human Database was used to determine single-nucleotide variants in the non-FV-deficient patient population.ResultsEight mutation sites on the F5 gene locus, including exon 16 homozygote Met1736Val and seven heterozygous mutations, including Asp68His, were found. Moreover, Met1736Val was found to be the dominant mutation in people living in the Taiwan community, and this result was compared with the records of the Chang Gung Human Database. The above-mentioned polymorphisms may result in a variable incidence of FV deficiency in Keelung City, thereby facilitating carrier diagnosis and prenatal diagnosis in most FV-deficient families.ConclusionThe homozygote Met1736Val and the co-inheritance of the Asp68His F5 gene are unique and worthy of screening in FV-deficient patients.

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Section: Discussioncontrasting

confidence: 62%

A Novel Phenotype of the Factor 5 Gene Mutation (Homozygote Met1736Val and Heterozygote Asp68His) Is Associated With Moderate Factor V Deficiency

et al. 2022

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“…Hereditary FV deficiency, also known as parahemophilia or Owren's disease, is an autosomal recessive hemorrhagic disorder that was first described by Owren in 1947 in Norway. 6 It is a very rare hemorrhagic disease, accounting for 7.2% of the cases of rare hereditary hemorrhagic diseases. Heterozygotes are usually asymptomatic.…”

Section: Discussionmentioning

confidence: 99%

Congenital coagulation factor V deficiency with intracranial hemorrhage

Yang

Mao

Sun

2022

Clinical Laboratory Analysis

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Background Congenital coagulation factor V (FV) deficiency is a very rare hemorrhagic disease with an incidence of approximately one in a million. The common clinical manifestations of FV deficiency include ecchymosis and mucosal bleeding. Life‐threatening intracranial bleeding is rare. It has been reported in several cases. However, the molecular basis has been established in only a few cases. Methods We reported a 2‐month‐old girl with congenital FV deficiency and intracranial hemorrhage. Coagulation screening combined with clinical manifestations was performed to diagnose congenital FV deficiency. Genetic testing was performed to identify the pathogenic genes. A literature review was included to emphasize the clinical manifestation, diagnosis, and treatment for congenital FV deficiency with intracranial bleeding. Results The coagulation tests revealed a significantly prolonged prothrombin time (PT) of 51 s and an activated partial thromboplastin time (APTT) of 73.7 s. The patient had a plasma FV activity of 0.9%. Genetic testing showed compound heterozygous mutations of the patient's FV gene. A literature review showed that patients with homozygous or compound heterozygous variants of the FV gene were often associated with a severe bleeding phenotype. Conclusion Our study provides a direction for the rapid and accurate diagnosis and treatment for FV deficiency to avoid life‐threatening bleeding. Infants with spontaneous cranial hematoma and intracranial hemorrhage should be investigated for underlying hemostatic defects. Congenital coagulation factor deficiency should be considered. Once congenital FV deficiency is diagnosed, fresh frozen plasma (FFP) should be given on a regular basis. Liver transplantation may be performed in severe cases.

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Association of factor V activity with risk of venous thromboembolism and atherothrombotic cardiovascular events: A retrospective population-based cohort study

Saliba

Warwar

Kotler

et al. 2018

Thrombosis Research

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Factor V Deficiency Associated with Congenital Cardiac Disorder and Intracranial Hemorrage

Cited by 4 publications

References 14 publications

A Novel Phenotype of the Factor 5 Gene Mutation (Homozygote Met1736Val and Heterozygote Asp68His) Is Associated With Moderate Factor V Deficiency

A Novel Phenotype of the Factor 5 Gene Mutation (Homozygote Met1736Val and Heterozygote Asp68His) Is Associated With Moderate Factor V Deficiency

Congenital coagulation factor V deficiency with intracranial hemorrhage

Association of factor V activity with risk of venous thromboembolism and atherothrombotic cardiovascular events: A retrospective population-based cohort study

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