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.

Autoimmune Hemorrhaphilia Resulting from Autoantibody against the A Subunit of Factor XIII

“…Our patient was a 65-year-old woman and presented with typical spontaneous intramuscular bleeding. FXIII deficiency in children is generally congenital, but a case of a 9-year-old girl with AHXIII has been reported (3). Approximately half of all AHXIII cases are idiopathic and aging may be one of the most important factors for AHXIII, probably due to the loss of "self-immune tolerance" (2).…”

Treatment of an acquired Factor XIII inhibitor in an adolescent with systemic lupus erythematosus and renal failure

“…Acquired FXIII deficiency is a rare complication of many medical conditions, including malignancies, cirrhosis, autoimmune disease, and sepsis, among others . There has been a slight female predominance identified in cases of acquired FXIII deficiency due to inhibitors .…”

“…1 Acquired FXIII deficiency is a rare complication of many medical conditions, including malignancies, cirrhosis, autoimmune disease, and sepsis, among others. 3 There has been a slight female predominance identified in cases of acquired FXIII deficiency due to inhibitors. 2 Acquired FXIII deficiency can present with soft tissue hematomas, postoperative bleeding, and/or cerebral hemorrhages with a mortality rate of 29% for those without cerebral hemorrhage at presentation compared with mortality rate of 60% with cerebral hemorrhage.…”

Development of anti‐factor XIII antibodies in a patient with hereditary factor XIII deficiency receiving therapy for chronic hepatitis C

“…Factor XIIIa (FXIIIa) is a transglutaminase that crosslinks proteins by catalyzing formation of covalent bonds between the side chains of glutamine and lysine residues [1][2][3]. It's primary function is cross-linking fibrin monomers during blood coagulation to provide tensile strength to a clot [1,2]. The inactive precursor of FXIIIa (FXIII) is a heterotetramer in plasma with two catalytic subunits (FXIII-A) and two carrier subunits (FXIII-B).…”