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Rare congenital bleeding disorders.

Massimo Franchini1,2, Giuseppe Marano1, Simonetta Pupella1

  • 1Italian National Blood Centre, National Institute of Health, Rome, Italy.

Annals of Translational Medicine
|October 12, 2018
PubMed
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Rare congenital bleeding disorders, including fibrinogen and factor deficiencies, present diverse symptoms and are treated with factor replacement therapy. This review summarizes current knowledge on these uncommon inherited conditions.

Keywords:
Rare bleeding disorderscongenitalprophylaxistreatment

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Area of Science:

  • Hematology
  • Genetics
  • Rare Diseases

Background:

  • Rare congenital bleeding disorders are a diverse group of inherited conditions.
  • These disorders include deficiencies in fibrinogen, prothrombin, and various clotting factors (V, VII, X, XI, XIII).
  • They are typically autosomal recessive, with severe forms affecting 1 in 500,000 to 1 in 2,000,000 individuals.

Purpose of the Study:

  • To provide a comprehensive overview of rare congenital bleeding disorders.
  • To summarize current knowledge on their pathophysiology, clinical manifestations, and treatment.

Main Methods:

  • This study is a narrative review.
  • Literature search was conducted to gather information on rare bleeding disorders.

Main Results:

  • Patients exhibit a wide range of symptoms, from mild mucocutaneous bleeding to severe hemorrhages, including central nervous system bleeding.
  • Treatment primarily involves replacing the deficient clotting factor using plasma-derived or recombinant products.

Conclusions:

  • Rare congenital bleeding disorders require specialized management.
  • Factor replacement therapy is the cornerstone of treatment when specific products are available.