Original ArticleFollow-Up and Quality of Life of Patients with Cryopyrin-Associated Periodic Syndromes Treated with Anakinra
Section snippets
Methods
Since September 2004, 20 patients with CAPS were enrolled in a registry from different Italian Centers of Pediatric Rheumatology. The criterion for the enrollment in the Registry was the presence of a clinical phenotype consistent with a CAPS-related condition associated or not with mutations of CIAS1/NALP3 gene.
Patients were classified as CINCA in the presence of at least 2 of these clinical manifestations: (1) early-onset urticarial skin rash associated with chronic inflammation; (2) CNS
Clinical Characteristics of Patients at Enrollment in the Registry
The main clinical findings observed in 20 CINCA/MWS at the time of the enrollment in the registry are reported in Table I (available at www.jpeds.com). The mean age at the enrollment was 12.1 years (range, 2 to 43); 17 patients were still in the pediatric age. Two patients (patients 4 and 9) had been followed continuously since the first years of life by pediatric centers for chronic inflammation of unknown origin until the final diagnosis. Patient 14, carrying a R260W mutation, was diagnosed
Discussion
We report our experience regarding the long-term follow-up of patients with CAPS followed by 6 Italian Pediatric Rheumatology centers. We provide data on the impact of disease activity on the quality of life of patients with CAPS and on the long-term efficacy of the treatment with the IL-1 receptor antagonist Anakinra in pediatric patients with CAPS.
Goldbach-Mansky et al11 reported their results with Anakinra on the systemic inflammatory features in a cohort of 18 children with CINCA/NOMID
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Supported in part by by Italian Telethon (GGP09127). The authors declare no conflicts of interest.