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Factor XIII Deficiency: A Silent Bleeder Behind a Normal Coagulation Profile
Ramesh Yadav1, Madhav Raj Karki2, Dikshya Pokhrel2
1Department of Paediatrics Birat Medical College Teaching Hospital Morang Nepal.
Clinical Case Reports
|March 9, 2026
Summary
Factor XIII deficiency, a rare bleeding disorder, can be missed by standard tests. Prompt diagnosis and fresh frozen plasma (FFP) treatment are crucial for managing bleeding complications.
Area of Science:
- Hematology
- Pediatric Medicine
- Rare Diseases
Background:
- Factor XIII deficiency is an uncommon inherited bleeding disorder.
- Infants may present with severe bleeding from minor trauma or spontaneously.
Purpose of the Study:
- To highlight a case of factor XIII deficiency in an infant.
- To emphasize diagnostic challenges and management strategies.
Main Methods:
- Case report of an 8-month-old male infant with persistent bleeding.
- Routine coagulation tests were normal; specific tests (urea clot solubility, factor XIII assay) were performed.
- Management involved fresh frozen plasma (FFP) and supportive care.
Main Results:
- The infant exhibited prolonged bleeding, petechiae, and ecchymosis.
- Factor XIII deficiency was confirmed despite normal routine coagulation parameters.
- The patient successfully recovered from an epidural hematoma with FFP treatment.
Conclusions:
- Factor XIII deficiency diagnosis requires specific assays beyond routine coagulation tests.
- Timely diagnosis and FFP administration are vital for preventing severe bleeding complications.
- Effective management is possible even in resource-limited settings.
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