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Updated: Jul 4, 2025

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
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Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding

Samin Mohsenian1, Roberta Palla1, Marzia Menegatti2

  • 1Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

Blood Advances
|January 29, 2024
PubMed

Insights

Congenital fibrinogen deficiency (CFD) is a rare bleeding disorder. This study characterized 166 CFD patients, revealing insights into bleeding severity, thrombotic events, and genetic variants, improving understanding of this rare condition.

Area of Science:

  • Hematology
  • Rare Diseases
  • Genetics

Background:

  • Congenital fibrinogen deficiency (CFD) is a rare inherited bleeding disorder.
  • It results from mutations in FGA, FGB, and FGG genes, affecting fibrinogen production or function.

Purpose of the Study:

  • To comprehensively characterize clinical, laboratory, and genetic features of patients with congenital fibrinogen deficiency.
  • To investigate bleeding severity, thrombotic events, and pregnancy outcomes in CFD patients.

Main Methods:

  • Retrospective data analysis from the Prospective Rare Bleeding Disorders Database (PRO-RBDD).
  • Inclusion of 166 CFD cases from 16 countries.
  • Genetic sequencing of FGA, FGB, and FGG genes to identify causative variants.

Main Results:

  • 123 CFD cases were well-characterized, including afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia.
  • Bleeding severity was correctly identified in 58% of cases based on factor activity thresholds.
  • Thrombotic events were observed in 11% of afibrinogenemic and 10% of hypofibrinogenemic patients.
  • A 31% rate of spontaneous abortions occurred in 68 pregnancies, predominantly in dysfibrinogenemia cases.
  • 41 distinct genetic variants were identified, with hotspot variants in FGG and FGA common in dysfibrinogenemia.

Conclusions:

  • Bleeding severity grading aligned with factor activity thresholds in about half of quantitative defects.
  • Obstetric complications are frequent in dysfibrinogenemia.
  • This study provides a comprehensive overview of CFD, aiding in clinical management and genetic understanding.

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