title: Congenital ADAMTS13 deficiency: a rare mimicker of immune thrombocytopenic purpura.
abstract: Congenital ADAMTS13 deficiency is a rare disease that leads to recurrent episodes of thrombotic thrombocytopenic purpura. We report a case that mimicked a recurring immune thrombocytopenic purpura in a child. Mild cases of ADAMTS13 deficiency may be initially confused with immune thrombocytopenic purpura if hemolytic anemia is not severe and renal or neurological symptoms are not present. Fresh frozen plasma is the treatment of choice in acute thrombotic thrombocytopenic purpura in ADAMTS13-deficient patients. The best long-term treatment for slightly symptomatic cases remains to be elucidated. Recombinant human ADAMTS13 factor will be a promising option when commercially available.
authors.affiliation: Servicio de Pediatría, Hospital Universitario Infanta Sofia, San Sebastian de los Reyes, Madrid, Spain.
authors.forename: Victor
authors.initials: V
authors.lastname: Quintero
authors.forename: Araceli
authors.initials: A
authors.lastname: Garcia-Pose
authors.forename: Ana
authors.initials: A
authors.lastname: Barrios-Tascon
authors.forename: Monica
authors.initials: M
authors.lastname: Pacheco-Cumani
mesh_terms: D051722:ADAM Proteins / Q000172:deficiency* / Q000276:immunology; D000071120:ADAMTS13 Protein; D000743:Anemia, Hemolytic / Q000175:diagnosis* / Q000276:immunology; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000175:diagnosis* / Q000276:immunology; D011697:Purpura, Thrombotic Thrombocytopenic / Q000175:diagnosis* / Q000276:immunology; D035781:Siblings
chemical_list: D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human