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Congenital factor XIII deficiency: report of a case and literature review
Insights
Congenital factor XIII deficiency, a rare bleeding disorder, was diagnosed in a young boy presenting with severe bleeding. Standard tests were normal, highlighting the need for specific factor XIII assessment.
Area of Science:
- Hematology
- Coagulation Disorders
- Pediatric Medicine
Background:
- Congenital factor XIII deficiency is a rare inherited bleeding disorder.
- Factor XIII (fibrin-stabilizing factor) is crucial for clot stability.
- Autosomal recessive inheritance is common, often with consanguineous parents.
Observation:
- A five-year-old boy presented with a history of bleeding from umbilical and circumcision sites.
- He experienced frequent ecchymoses and hematomas after minor trauma.
- Parents were first cousins, suggesting a possible genetic link.
Findings:
- Standard hemostatic screening tests were within normal limits for the patient and his parents.
- A clot solubility test indicated presumptive factor XIII deficiency.
- Confirmation was achieved by demonstrating the absence of factor XIII via latex agglutination.
Implications:
- This case underscores the importance of considering factor XIII deficiency in unexplained bleeding disorders, even with normal initial screening.
- Accurate diagnosis requires specific factor assays.
- Early identification and management are vital for preventing severe hemorrhage in affected individuals.
Abstract:
We described a five-year-old boy with congenital deficiency of factor XIII. He had bled from the umbilical and circumcision sites during the first week of life. He had frequent ecchymoses and hematomas within 12-24 hours after trauma. His parents are first cousins. The screening hemostatic tests of this patient and his parents were within normal limits. Factor XIII, known as "fibrin-stabilizing factor", is a transpeptidase that produces strong covalent bonds between soluble fibrin monomers formed during coagulation. Presumptive diagnosis of factor XIII deficiency was made with a clot solubility screening test and confirmation was accomplished by demonstrating the absence of factor XIII by latex agglutination.