title: Intracranial hemorrhage in congenital deficiency of factor XIII.
abstract: We describe a male infant with congenital deficiency of coagulation Factor XIII who presented in the immediate postnatal period with umbilical stump bleeding and suffered a severe intracranial hemorrhage at 2 months of age. Factor XIII, also 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 cross-linked fibrin chains by electrophoresis. This patient had received replacement therapy for 2 years, initially with intravenous fresh frozen plasma, and recently with Fibrogammin (Hoechst-Roussel Pharmaceuticals), a European Factor XIII concentrate soon to be available in the United States. Factor XIII deficiency is associated with a high incidence of life-threatening complications, notably intracranial hemorrhage. In light of the long half-life of this factor and the relatively low risk associated with new Factor XIII concentrates, such as Fibrogammin, prophylactic life-long replacement therapy should be considered for patients with severe Factor XIII deficiency.
authors.affiliation: Department of Laboratory Medicine, Georgetown University Medical Center, Washington, D.C. 20007.
authors.forename: S L
authors.initials: SL
authors.lastname: Abbondanzo
authors.forename: J E
authors.initials: JE
authors.lastname: Gootenberg
authors.forename: R S
authors.initials: RS
authors.lastname: Lofts
authors.forename: R A
authors.initials: RA
authors.lastname: McPherson
mesh_terms: D002543:Cerebral Hemorrhage / Q000209:etiology*; D005177:Factor XIII Deficiency / Q000150:complications* / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D008297:Male