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Clinical Features and Management of Congenital Fibrinogen Deficiencies

Alessandro Casini1, Philippe de Moerloose1, Marguerite Neerman-Arbez2

  • 1Division of Angiology and Haemostasis, University Hospitals and Faculty of Medicine, Geneva, Switzerland.

Seminars in Thrombosis and Hemostasis
|March 29, 2016
PubMed

Insights

Congenital fibrinogen disorders, affecting fibrinogen quantity or quality, present diverse clinical issues from bleeding to thrombosis. Management requires personalized strategies, often using fibrinogen concentrates for bleeding.

Area of Science:

  • Hematology
  • Rare Diseases
  • Genetics

Background:

  • Congenital fibrinogen disorders are rare genetic conditions impacting plasmatic fibrinogen levels or function.
  • These disorders encompass afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia, each with unique clinical profiles.
  • Manifestations range from asymptomatic presentations to severe bleeding, thrombosis, and specific organ complications.

Purpose of the Study:

  • To review the diverse clinical manifestations of congenital fibrinogen disorders.
  • To discuss the diagnostic challenges and management strategies for these rare conditions.
  • To highlight the importance of personalized treatment approaches based on individual patient factors.

Main Methods:

  • Literature review of congenital fibrinogen disorders.
  • Analysis of clinical presentations, diagnostic criteria, and management guidelines.
  • Expert consensus-based recommendations for treatment.

Main Results:

  • Afibrinogenemia often presents with neonatal bleeding; hypofibrinogenemia may be asymptomatic.
  • Dysfibrinogenemia exhibits heterogeneous symptoms, including bleeding, thrombosis, and organ-specific complications.
  • Hypodysfibrinogenemia can involve both bleeding and thrombotic events.
  • Pregnancy in affected women poses significant risks.
  • Plasma-derived fibrinogen concentrates are recommended for bleeding management.

Conclusions:

  • Congenital fibrinogen disorders require individualized management plans.
  • Treatment strategies must consider patient history, genotype, and clinical status.
  • Plasma-derived fibrinogen concentrates are crucial for managing bleeding episodes.
  • Thrombosis management presents unique challenges in these patients.

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