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A refractory heterogeneous Cryopyrin-Associated Periodic Syndrome (CAPS) phenotype related to V198M mutation responds to canakinumab - a case report

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  • 1Email author
Pediatric Rheumatology20119 (Suppl 1) :P9

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  • Rhinitis
  • Gastroenteritis
  • Anakinra
  • Residual Symptom
  • Respiratory Viral Infection


V198M mutation has been identified in more than one CAPS phenotype and is difficult to treat.


To report effects of prolonged selective IL-1β inhibition with canakinumab in a CAPS phenotype related to V198M mutation.


A 9-year old boy, diagnosed with symptomatic MWS and evidence of a V198M mutation (father also V198M), only partially responsive to anakinra, participated in a phase III study of canakinumab in CAPS patients (N=166). Study treatment was 8-weekly administration of canakinumab by s.c. injection, 150 mg to adults and 2 mg/kg to patients ≤40 kg for up to 2 years. Administration frequency and dose (maximum 600 mg or 8 mg/kg [≤40 kg]) were increased in case of residual symptoms.


After insufficient response to per-protocol canakinumab dose, the patient received high dose canakinumab (10 mg/kg, i.v.) every 4 weeks from Day 20 onwards to >440 days. Disease activity improved from severe to moderate at Day 48 and remained stable including normal CRP and SAA values (<10 mg/L). Temporary mild adverse events (AE) were not suspected to be treatment-related (upper respiratory viral infection, gastroenteritis, and rhinitis). Night sweats, dry lips and skin persisted until last assessments. No serious AEs /infections were reported in this patient.


Based on our experience in this patient and a review of literature on efficacy of IL-1 inhibition in CAPS patients with V198M mutation, high dose canakinumab i.v* with increased dosing frequency yields symptomatic relief without evidence of increased AE. Confirmation of our observation in more patients with similar genetic and clinical presentation is needed.

*The posology used for this case is not in line with the approved posology of canakinumab

Authors’ Affiliations

Division of Pediatric Rheumatology, Department of Pediatrics, University Hospital Tübingen, Germany


© Hansmann et al; licensee BioMed Central Ltd. 2011

This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.