title: A child with acquired factor XIII deficiency: case report and literature review.
abstract: Factor XIII (FXIII) deficiency is a rare bleeding disorder, which can result in life threatening hemorrhage. Rarer still is acquired FXIII deficiency, in which the disorder is due to autoantibodies that inhibit the factor. To describe one of the youngest reported patients with this condition. To discuss the challenges we encountered in monitoring response with the available assays. To review the literature and provide a review of all acquired FXIII cases. We present the case of our patient, a 9-year-old girl with acquired FXIII deficiency. We present a comprehensive review of all acquired FXIII deficiency cases reported globally in English, with focus on clinical presentation, diagnostic assays, treatment and prognosis. There is no current standard for therapy and measuring response to therapy can be complicated by limitations of assays in the presence of inhibitors. Clinicians should be aware of acquired FXIII deficiency as a potentially life threatening bleeding disorder even in young children. The case presented illustrates a young patient with acquired FXIII deficiency with a good clinical response to cryoprecipitate and difficulty in hemostasis monitoring utilizing clinically available assays.
authors.affiliation: Division of Pediatric Hematology/Oncology, Children's Hospital at Montefiore, Bronx, NY, USA.
authors.forename: R
authors.initials: R
authors.lastname: Kessel
authors.forename: C
authors.initials: C
authors.lastname: Hu
authors.forename: L
authors.initials: L
authors.lastname: Shore-Lesserson
authors.forename: J
authors.initials: J
authors.lastname: Rand
authors.forename: D
authors.initials: D
authors.lastname: Manwani
mesh_terms: D002648:Child; D005176:Factor XIII / Q000032:analysis / Q000235:genetics / Q000378:metabolism; D005177:Factor XIII Deficiency / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D005260:Female; D005341:Fibrinolysin / Q000627:therapeutic use; D005343:Fibrinolytic Agents / Q000627:therapeutic use; D006406:Hematoma / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D011379:Prognosis; D021122:Protein Subunits / Q000032:analysis / Q000737:chemistry / Q000378:metabolism; D011994:Recombinant Proteins / Q000096:biosynthesis / Q000235:genetics / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: D005343:Fibrinolytic Agents; D021122:Protein Subunits; D011994:Recombinant Proteins; D005176:Factor XIII; D005341:Fibrinolysin
keywords: bleeding diathesis; factor XIII assays; factor XIII deficiency