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How I treat dysfibrinogenemia.

Alessandro Casini1,2, Philippe de Moerloose2

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Congenital dysfibrinogenemia (CD) involves fibrinogen gene mutations causing varied bleeding or clotting risks. Diagnosis uses lab tests and genetic analysis, with management focusing on fibrinogen replacement and anticoagulation for thrombosis-prone variants.

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Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Background:

  • Congenital dysfibrinogenemia (CD) arises from structural fibrinogen alterations affecting function.
  • Diagnosis relies on discordant fibrinogen activity and antigen levels, confirmed by genetic testing.
  • CD results from heterozygous mutations in fibrinogen genes, presenting diverse clinical phenotypes.

Purpose of the Study:

  • To outline diagnostic approaches for congenital dysfibrinogenemia.
  • To discuss management strategies for bleeding, thrombosis, surgery, and pregnancy in CD patients.
  • To highlight common clinical challenges through five illustrative case scenarios.

Main Methods:

  • Review of diagnostic criteria for CD, including laboratory discrepancies and genetic confirmation.
  • Analysis of clinical management strategies, including fibrinogen supplementation and anticoagulation.
  • Presentation and discussion of five distinct clinical scenarios encountered in CD management.

Main Results:

  • Most CD patients are asymptomatic but risk bleeding or thrombosis.
  • Thrombosis-risk variants necessitate consideration of long-term anticoagulation.
  • Effective management involves tailored strategies for surgery, pregnancy, and bleeding/thrombotic events.

Conclusions:

  • Accurate diagnosis of CD is crucial for appropriate patient management.
  • Personalized treatment plans are essential to address the heterogeneity of CD clinical presentations.
  • Fibrinogen supplementation and anticoagulation are key therapeutic modalities in managing CD.