PO08 - Factor XIII Deficiency As Underlying Cause Of Unexplained Intracranial Hemorrhage

Background: Factor XIII deficiency commonly presents with intracranial hemorrhage (ICH) accounting for about 30% of cases and a mortality rate of 80%. Replacement therapy is the mainstay of treatment for ICH in Factor XIII deficiency.

Aims: We present a case of a 10-year-old Hispanic male with a clinical presentation of spontaneous intracranial hemorrhage secondary to factor XIII deficiency.

Methods: A 10 year-old male presented to the pediatric emergency department with chief complaint of progressive severe headache in frontal region and irritability of five days following an accidental head trauma. Neurological examination revealed a Glasgow Coma Scale (GCS) of 12/15 (O3/V3/M6). An urgent computed tomography scan of the brain revealed an acute epidural and subdural hemorrhage in the right temporal region and fracture in right temporal region.
Past medical history revealed hospital admission to the neonatal intensive care unit on his fifth day of life due to excessive bleeding from the umbilical stump. At age 3, he presented intracranial hemorrhage but had never been evaluated by a pediatric hematology service. Bleeding and coagulation profiles were found to be normal except for the plasma factor XIII level which was reported at 1%. Factor XIII deficiency was confirmed as the cause of ICH in this patient. Prior to the surgical management Factor XIII concentrate was administered at 50IU.kg and plasma factor XIII level was reported at 83%. The acute epidural and subdural hemorrhages were managed surgically due to an obstructive hydrocephalus. The patient was started on life-long factor replacement with factor XIII concentrate at 35 U/kg every 4 weeks and has not presented any spontaneous bleeding since.

Results: (Case Report)

Conclusion(s): ICH poses the most devastating consequences in factor XIII deficiency. The two main consequences of ICH in FXIII deficiency are death and onset of neurological complications. ICH can be prevented by regular prophylaxis with FXIII concentrate.