Late presentation of factor XIII deficiency with recurrent muscle hematomas

Abstract

Background: Plasma factor XIII is a proenzyme that gets activated in the final step of the coagulation cascade. Its physiological role is to stabilize clot formation by catalyzing the cross-linkage of fibrin. Factor XIII deficiency is a rare autosomal recessive disorder. Clinical Description: A 10-year-old boy presented with acute-onset swelling of the arm following a minor fall. There were no constitutional symptoms. There was a significant history of similar swellings 2 years earlier that had required surgery. The past and family history were otherwise noncontributory. The child was hemodynamically stable. Local signs suggested a hematoma or tumor. There was no pallor, icterus, petechiae, or ecchymosis. The remaining examination was normal. Provisional diagnoses included nonaccidental trauma or an underlying primary or secondary bleeding diatheses, tumor, or chronic osteomyelitis. Management: Soft-tissue ultrasonography showed a hematoma. The radiograph was normal. Hemograms, first-line tests for coagulopathy, infective biomarkers, and liver and kidney function tests were normal. There were no stigmata of neglect or physical/emotional abuse in the child. Since the clinical phenotype was of a bleeding disorder, but supportive investigations were inconclusive, we suspected factor XII deficiency. Specific levels showed zero activity. Fresh frozen plasma was administered due to the nonavailability of factor XIII. The hematoma was managed surgically. The child was discharged after genetic counseling and is receiving monthly cryoprecipitate. He is asymptomatic till now. Conclusion: Factor XIII deficiency should be suspected when there are clinical indicators of a bleeding diathesis, but supportive tests are not deranged.

Keywords

• bleeding diathesis
• coagulopathy
• cryoprecipitate
• factor assay
• fresh frozen plasma