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Congenital afibrinogenemia

H al-Mondhiry1, W C Ehmann

  • 1Department of Medicine, Pennsylvania State University College of Medicine, Milton S. Hershey Medical Center 17033.

American Journal of Hematology
|August 1, 1994
PubMed
Summary
This summary is machine-generated.

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Congenital afibrinogenemia, a rare inherited bleeding disorder, presents with variable bleeding and spleen rupture risks. Diagnosis involves detecting low fibrinogen levels, with cryoprecipitate as a treatment.

Area of Science:

  • Hematology
  • Genetics
  • Rare Diseases

Background:

  • Congenital afibrinogenemia is a rare autosomal recessive disorder.
  • Characterized by absent or trace levels of fibrinogen, leading to bleeding diathesis.
  • Consanguinity is frequently observed in affected families.

Purpose of the Study:

  • To summarize the clinical manifestations, diagnosis, and management of congenital afibrinogenemia.
  • To highlight the genetic basis and diagnostic criteria for this rare coagulation disorder.
  • To discuss current and emerging treatment options for bleeding episodes.

Main Methods:

  • Review of existing literature on congenital afibrinogenemia.
  • Analysis of clinical case reports and genetic studies.

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  • Synthesis of diagnostic approaches and therapeutic strategies.

    • Main Results:

    • Clinical spectrum ranges from mild bruising to severe hemorrhage.
    • Increased susceptibility to spontaneous splenic rupture is noted.
    • Coagulation tests show prolonged clotting times; platelet function abnormalities are common.
    • Diagnosis confirmed by absence of immunoreactive fibrinogen.
    • Genetic defect underlying fibrinogen synthesis remains largely unknown.

    Conclusions:

    • Congenital afibrinogenemia requires prompt diagnosis and management due to potential life-threatening bleeding.
    • Cryoprecipitate is an effective treatment for bleeding episodes.
    • Fibrinogen concentrates offer a promising alternative, pending wider availability.