Factor XIII Deficiency: A Silent Bleeder Behind a Normal Coagulation Profile

TL;DR

A rare bleeding disorder, factor XIII deficiency, can go undetected in standard tests, leading to severe complications if not diagnosed and treated promptly.

Contribution

This case highlights the diagnostic challenges of factor XIII deficiency and the need for targeted testing in resource-limited settings.

Findings

Routine coagulation tests may appear normal despite factor XIII deficiency.

Delayed diagnosis can lead to severe complications like epidural hematoma.

Fresh frozen plasma and prophylactic care can effectively manage the condition.

Abstract

Factor XIII deficiency is a rare cause of bleeding disorder. An 8‐month‐old male infant presented with persistent bleeding from a minor lip cut injury, which was sustained 2 days prior. The bleeding did not stop despite local hemostatic measures. His medical history was notable for spontaneous intradermal bleeds at different times and umbilical stump bleeding during the neonatal period. On examination, there were multiple petechiae and a large ecchymosis over the chest. Routine hematological and coagulation parameters were within normal limits. von Willebrand factor, factor VIII, and factor IX levels were normal. However, a qualitative 5M urea clot solubility test followed by factor XIII assay yielded abnormal results, confirming factor XIII deficiency. The patient was managed with fresh frozen plasma (FFP) and supportive care. Four months later, the patient presented with lethargy and vomiting, later diagnosed as epidural hematoma. The patient received FFP, had a favorable stay in the pediatric intensive care unit, and was discharged with no neurological deficits and a prophylactic plan. This case underscores how factor XIII deficiency can elude detection in routine coagulation tests, emphasizing the importance of prompt diagnosis and timely administration of replacement therapy to prevent complications and associated constraints in a resource limited setting.

Factor XIII deficiency can elude detection in routine coagulation tests in developing countries, emphasizing the importance of prompt diagnosis and timely administration of replacement therapy to prevent complications.

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