Factor XIII deficiency in children--clinical presentation and outcome.
OBJECTIVE
To determine the demographic features and clinical outcome of children with Factor XIII deficiency.


METHODS
Observational case series.


METHODS
The Aga Khan University Hospital, Karachi, from January 1996 to December 2006.


METHODS
Records of all hospitalized pediatric patients with discharge diagnosis of FXIII D, on the basis of factor XIII assay 5 mol/L urea test were retrospectively reviewed and abstracted on a pre-specified proforma. Demographic features, coagulation profile, family history and outcomes were noted.


RESULTS
A total of 10 charts were reviewed. There were 5 boys and 5 girls. Almost all the children (9/10) were less than 5 years of age, out of whom 5 (50%) were infants, and 3 were neonates. Bruises and prolonged bleeding after trauma was the major presenting complaints in 80%, followed by prolonged bleeding from the umbilical stump in 2 patients. Nine patients had past history of prolonged umbilical bleeding. Two patients had history of FXIII D in siblings, while 2 had history of prolonged bleeding in other family members (cause unknown). Consanguinity was present in 80% of the families. Initial coagulation screen were normal in all patients. Two patients had intracranial hemorrhage, proved on neuro-imaging, were managed with plasma infusions and required craniotomy. The rest were managed conservatively with plasma transfusions. All were discharged alive in good clinical condition. Almost all were followed regularly in clinic with monthly cryoprecipitate transfusions.


CONCLUSIONS
Although factor XIII deficiency is a rare genetic disorder in children with history of bruising, prolonged umbilical bleeding, family history of bleeding and consanguinity with normal initial coagulation screen (PT, APTT and platelets), FXIII D should be ruled out.
Fadoo
Zehra
Z
Department of Pediatrics and Child Health, The Aga Khan University Hospital, 4th Lane, Khayabane Badar, Karachi. zehra.fadoo@aku.edu
Saleem
Ali Faisal
AF
D001780:Blood Coagulation Tests; D002648:Child; D002675:Child, Preschool; D005175:Factor XII Deficiency / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012189:Retrospective Studies; D012307:Risk Factors; D016896:Treatment Outcome