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[Congenital afibrinogenemia: about a case].

Karim Assani1, Lamya Karboubi1, Badr Sououd Benjelloun Dakhama1

  • 1Service des Urgences Pédiatriques, Hôpital d'Enfants, Rabat, CHU Ibn-Sina, Maroc.

The Pan African Medical Journal
|March 16, 2017
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Summary

Congenital afibrinogenemia, a rare inherited fibrinogen deficiency, can cause severe bleeding. This report details a new case in a child, emphasizing clinical, biological, genetic, and therapeutic aspects.

Keywords:
Afibrinogenemiablood clotting disordersfibrinogen concentrate

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Area of Science:

  • Hematology
  • Genetics
  • Pediatrics

Background:

  • Afibrinogenemia is a rare autosomal recessive disorder causing congenital fibrinogen deficiency.
  • It presents with variable and potentially life-threatening hemorrhagic manifestations.
  • Over 250 cases have been documented globally.

Observation:

  • A new case of congenital afibrinogenemia is presented in a 3 1/2-year-old child.
  • The child was hospitalized due to significant hematemesis (vomiting blood).

Findings:

  • This case study offers insights into the clinical presentation of afibrinogenemia.
  • It explores the biological, genetic, and therapeutic dimensions of the condition.
  • Highlights the importance of comprehensive management strategies.

Implications:

  • This case contributes to the limited published data on congenital afibrinogenemia.
  • It underscores the need for early diagnosis and tailored treatment approaches.
  • Enhances understanding for clinicians managing rare bleeding disorders.