title: Inherited ADAMTS13 deficiency: unique presentation and treatment.
abstract: A 3-year-old male presented with severe thrombocytopenia and microangiopathic hemolytic anemia in conjunction with severe bilateral otitis media. After laboratory analysis, a diagnosis of inherited ADAMTS13 deficiency was proven. Rather than treating with prophylactic fresh frozen plasma, to date the patient has been successfully treated with single-donor, directed plasma infusions in response to early signs of relapse. It may be reasonable to consider observational and reactive care rather than prophylactic care in some cases of inherited ADAMTS13 deficiency.
authors.affiliation: Department of Pediatric Hematology/Oncology, Gundersen Lutheran Health System, La Crosse, Wisconsin, USA.
authors.forename: Hayley
authors.initials: H
authors.lastname: Born
authors.forename: Antoinette
authors.initials: A
authors.lastname: Peters
authors.forename: Robert
authors.initials: R
authors.lastname: Ettinger
mesh_terms: D051722:ADAM Proteins / Q000172:deficiency* / Q000235:genetics; D000071120:ADAMTS13 Protein; D000743:Anemia, Hemolytic / Q000175:diagnosis / Q000209:etiology / Q000628:therapy*; D002675:Child, Preschool; D020022:Genetic Predisposition to Disease; D006463:Hemolytic-Uremic Syndrome / Q000175:diagnosis / Q000209:etiology / Q000628:therapy*; D006801:Humans; D007262:Infusions, Intravenous; D008297:Male; D010951:Plasma Exchange; D010956:Plasmapheresis; D011697:Purpura, Thrombotic Thrombocytopenic / Q000151:congenital / Q000175:diagnosis / Q000209:etiology / Q000628:therapy*
chemical_list: D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human