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Congenital Fibrinogen Disorders

  • Akbar Dorgalaleh
  • Alessandro Casini
  • Parvin Rahmani
Chapter

Abstract

Congenital fibrinogen disorders (CFD) are rare coagulation disorders. CFD can affect quantity (afibrinogenemia and hypofibrinogenemia), quality (dysfibrinogenemia), or both aspects (hypodysfibrinogenemia) of the fibrinogen molecule. The precise prevalence of CFD is not known, except for afibrinogenemia with an estimated incidence of 1 per 1,000,000 of person. Most patients with hypofibrinogenemia and dysfibrinogenemia are asymptomatic, while hemorrhage is frequent in afibrinogenemia often with umbilical cord bleeding at diagnosis. Thrombotic and obstetrical complications are also a common complication in patients with CFD. Diagnosis is based on the assessment of both antigenic and functional fibrinogen levels. In routine clinical use, the Clauss functional assay is recommended, although a variety of functional and antigenic assays with variable sensitivity are available. Genotype helps to confirm the diagnosis. A wide spectrum of mutations has been discovered in FGA, FGB, and FGG encoding the three chains of fibrinogen molecule. Two hotspot mutations are prevalent in afibrinogenemia and dysfibrinogenemia. Management of patients with congenital fibrinogen disorders is challenging and should always take in account the personal and familial history as well as the genotype in qualitative fibrinogen disorders.

Keywords

Congenital fibrinogen disorders Rare coagulation disorders Diagnosis Clinical manifestation Afibrinogenemia Hypofibrinogenemia Dysfibrinogenemia Hypodysfibrinogenemia 

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Akbar Dorgalaleh
    • 1
  • Alessandro Casini
    • 2
  • Parvin Rahmani
    • 3
  1. 1.Department of Hematology and Blood Transfusion, School of Allied MedicineIran University of Medical SciencesTehranIran
  2. 2.Division of Angiology and Haemostasis, Faculty of MedicineUniversity Hospitals of GenevaGenevaSwitzerland
  3. 3.Department of Hematology and Blood Transfusion, School of Allied MedicineTehran University of Medical SciencesTehranIran

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