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Factor XIII deficiency associated with Klippel-Weber disease, platelet dysfunction and cryofibrinogenemia
Acta Haematologica
|January 1, 1983
Summary
This study details a rare case of factor XIII deficiency in a young woman, presenting with severe bleeding and poor wound healing. Diagnosis was confirmed by low factor XIII levels and associated hematologic abnormalities.
Area of Science:
- Hematology
- Coagulation Disorders
- Rare Genetic Diseases
Background:
- Factor XIII deficiency is a rare inherited bleeding disorder.
- It is characterized by impaired wound healing and a tendency towards bleeding.
- This case highlights the complex hemostatic abnormalities associated with the condition.
Observation:
- A 23-year-old woman presented with a lifelong bleeding tendency and poor wound healing.
- She exhibited Klippel-Weber disease with hemangiomas.
- Hematologic studies revealed platelet dysfunction, hypofibrinogenemia, and signs of chronic disseminated intravascular coagulation.
Findings:
- Factor XIII levels were significantly reduced (10%) with decreased transamidase activity (26%).
- Subunit assays showed reduced levels of factor XIII subunits A and S.
- Reduced clot retraction and thrombelastogram maximal amplitude were observed.
Implications:
- This case underscores the importance of comprehensive coagulation screening in patients with unexplained bleeding.
- Understanding the pathophysiology of factor XIII deficiency is crucial for managing patients.
- Further research into associated hemostatic defects may improve patient outcomes.