Treatment of congenital thrombotic thrombocytopenic purpura with eculizumab

Carmine Pecoraro, Alfonso Vincenzo Salvatore Ferretti, Erica Rurali, Miriam Galbusera, Marina Noris, Giuseppe Remuzzi

Research output: Contribution to journalArticlepeer-review


A 12-year-old boy was hospitalized for hemolytic anemia, thrombocytopenia, acute kidney injury, and generalized seizures. The childhood onset, severely decreased kidney function, absence of prodromal diarrhea, negative test results for Shiga-like toxin-producing Escherichia coli, elevated plasma levels of the terminal complement complex sC5b-9, and ex vivo testing in endothelial cells showing serum-induced complement activation were all consistent with a diagnosis of complement-mediated atypical hemolytic uremic syndrome. Before plasma ADAMTS13 (von Willebrand factor protease) activity results were available, the patient was treated with the anti-C5 monoclonal antibody eculizumab, and treatment was followed by prompt disease remission. However, results of ADAMT13 activity level tests and gene screening revealed a severe deficiency associated with 2 heterozygous mutations in the ADAMTS13 gene, fully consistent with a diagnosis of congenital thrombotic thrombocytopenic purpura. Screening for atypical hemolytic uremic syndrome-associated genes failed to show a mutation and an assay for plasma anti-factor H antibodies gave negative results both before and after eculizumab treatment initiation. The patient's clinical evolution suggests that complement activation plays a role in the pathogenesis of thrombotic thrombocytopenic purpura and provides unexpected new insights into the treatment of this life-threatening disease.

Original languageEnglish
Pages (from-to)1067-1070
Number of pages4
JournalAmerican Journal of Kidney Diseases
Issue number6
Publication statusPublished - Dec 1 2015


  • ADAMTS13
  • atypical hemolytic uremic syndrome (aHUS)
  • complement
  • congenital TTP
  • eculizumab
  • terminal complement pathway
  • thrombotic microangiopathy (TMA)
  • Thrombotic thrombocytopenic purpura (TTP)
  • ultralarge vWF (ULvWF)
  • von Willebrand factor (vWF) protease

ASJC Scopus subject areas

  • Nephrology


Dive into the research topics of 'Treatment of congenital thrombotic thrombocytopenic purpura with eculizumab'. Together they form a unique fingerprint.

Cite this