Orphanet: Familial afibrinogenemia
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Familial afibrinogenemia

Disease definition

Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.

ORPHA:98880

Classification level: Subtype of disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D68.2
  • OMIM: 202400
  • UMLS: C2584774
  • MeSH: -
  • GARD: 5761
  • MedDRA: -

Summary

Epidemiology

Prevalence of afibrinogenemia is estimated at 1/1,000,000.

Clinical description

Common manifestations of afibrinogenemia include umbilical cord bleeding, epistaxis, hemarthrosis, gastrointestinal bleeding, menorrhagia, traumatic and surgical bleeding and, rarely, intracranial hemorrhage. Recurrent spontaneous abortions may occur.

Etiology

The deficiency is due to various mutations in the FGA, FGB, or FGG genes.

Genetic counseling

Transmission is autosomal recessive.

- Last update: October 2009

  A summary on this disease is available in Español (2009) Français (2009) Nederlands (2009)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.