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Congenital factor II deficiency

ORPHA325
Synonym(s) Dysprothrombinemia
Hypoprothrombinemia
Prothrombin deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset All ages
ICD-10
  • D68.2
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms. Factor II deficiency is the most rare coagulation factor deficiency. Prevalence of homozygous forms is estimated at 1/2,000,000. Both sexes are equally affected. Congenital FII deficiency can manifest at any age, with severe forms of the disease manifesting early in life. Common clinical signs include epistaxis, menorrhagia, oral cavity bleedings, mucosal bleeding, soft tissue bleeding, hemarthroses, easy bruising, and prolonged bleeding after tooth extraction, trauma or surgery. Severe forms may present intracranial hemorrhage or umbilical bleeding. The severity of the bleeding manifestations correlates with the FII levels. Inherited FII deficiency is caused by mutations in the F2 gene (11p11-q12) encoding prothrombin. Transmission is autosomal recessive. Diagnosis is based on prolonged prothrombin and activated partial thromboplastin times (PT, aPTT) and on low FII coagulant activity measured using a PT based assay. Molecular testing is available, but is unnecessary for diagnosis. Differential diagnoses include deficiencies of factors V, VII, X, VIII, IX, XI, XIII or acquired deficiencies in FII (lupus anticoagulant) (see these terms). Prothrombin Complex Concentrates (PCCs) or fresh frozen plasma (if PCCs are not available) is usually used to treat hemorrhagic episodes. Prognosis is good with early diagnosis and adequate treatment.

Expert reviewer(s)

  • Pr Jenny GOUDEMAND

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Detailed information

Summary information
Article for general public
  • FR (2009,pdf)
Clinical genetics review
  • EN (2014)
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