title: Remission of thrombotic thrombocytopenic purpura in a patient with compound heterozygous deficiency of von Willebrand factor-cleaving protease by infusion of solvent/detergent plasma.
abstract: Plasma exchange or plasma infusion is considered to be the therapy of choice in patients with thrombotic thrombocytopenic purpura (TTP) who are deficient in von Willebrand factor-cleaving protease (VWF-CP). Recently, mutations in the ADAMTS 13 gene were identified as being responsible for VWF-CP deficiency in patients with familial TTP (VWF-CP deficiency in the absence of an inhibitor). Here we report on a girl who presented with recurrent thrombocytopenia and anaemia since birth, developing the full pentad of characteristic TTP at the age of 16 y. Congenital TTP was confirmed on the basis of severe VWF-CP deficiency in the absence of an acquired inhibitor. The patient was found to be compound heterozygous for two hitherto undescribed mutations in the ADAMTS 13 gene: a truncating frame shift mutation, 4143insA in exon 29, and the nonsense mutation 3100A >T in exon 24 (R1034X). After infusion of solvent/detergent plasma, the patient went into remission and remained asymptomatic under regular plasma therapy at 2-wk intervals for over two years.
  
  
  CONCLUSIONS
  TTP in childhood may be mild and oligosymptomatic. Determination of VWF-CP activity is helpful in the differential diagnosis of thrombocytopenia.
authors.affiliation: Department of Paediatrics, Friedrich-Schiller-University, Jena, Germany. Karim.Kentouche@med.uni-jena.de
authors.forename: K
authors.initials: K
authors.lastname: Kentouche
authors.forename: U
authors.initials: U
authors.lastname: Budde
authors.forename: M
authors.initials: M
authors.lastname: Furlan
authors.forename: V
authors.initials: V
authors.lastname: Scharfe
authors.forename: R
authors.initials: R
authors.lastname: Schneppenheim
authors.forename: F
authors.initials: F
authors.lastname: Zintl
mesh_terms: D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; D000293:Adolescent; D018389:Codon, Nonsense; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D008666:Metalloendopeptidases / Q000172:deficiency*; D010951:Plasma Exchange; D010976:Platelet Count; D011697:Purpura, Thrombotic Thrombocytopenic / Q000235:genetics / Q000628:therapy*; D012074:Remission Induction
chemical_list: D018389:Codon, Nonsense; D051722:ADAM Proteins; D008666:Metalloendopeptidases; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human