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Inherited factor XIII deficiency.

D Waks, J Arnout, A Demulder

    Acta Clinica Belgica
    |January 1, 1989
    PubMed
    Summary
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    This study describes a rare inherited factor XIII deficiency case. Successful treatment involved monthly factor XIII concentrate injections, highlighting its efficacy for managing bleeding disorders.

    Area of Science:

    • Hematology
    • Genetics
    • Pediatrics

    Background:

    • Inherited factor XIII deficiency is a rare bleeding disorder.
    • It is characterized by a lifelong risk of severe hemorrhage.
    • Accurate diagnosis and effective treatment are crucial for patient management.

    Observation:

    • A 7-year-old patient presented with a history of umbilical and cerebral hemorrhage, spontaneous hemarthrosis, and delayed hematomas after trauma.
    • Biological diagnosis revealed undetectable transamidating activity and factor XIII alpha chains, with reduced beta chains.
    • Parental factor XIII levels were intermediate, suggesting an autosomal inheritance pattern.

    Findings:

    • The patient's factor XIII deficiency was confirmed by absent alpha chains and reduced beta chains.

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  • Heated factor VIII concentrates were found to be ineffective for factor XIII replacement therapy.
  • Monthly injections of a factor XIII concentrate proved successful in managing the patient's bleeding episodes.

    • Implications:

    • This case underscores the importance of early diagnosis for inherited factor XIII deficiency.
    • Factor XIII concentrate is an effective therapeutic option for patients with this rare bleeding disorder.
    • Understanding the genetic basis and clinical manifestations aids in better patient care and treatment strategies.