Elsevier

The Journal of Pediatrics

Volume 157, Issue 2, August 2010, Pages 310-315.e1
The Journal of Pediatrics

Original Article
Follow-Up and Quality of Life of Patients with Cryopyrin-Associated Periodic Syndromes Treated with Anakinra

https://doi.org/10.1016/j.jpeds.2010.02.040Get rights and content

Objective

To evaluate the quality of life and long-term follow-up of patients enrolled in the Italian registry of cryopyrin-associated periodic syndromes (CAPS).

Study design

Since 2004, 20 patients with CAPS were enrolled in a common registry from different Italian Centers of Pediatric Rheumatology; 14 patients were treated with Anakinra in an open fashion. Both treated and untreated patients were routinely followed according to standard of care. The Child Health Questionnaire (CHQ-PF 50) was used to assess the health-related quality of life.

Results

The mean duration of follow-up was 37.5 months. In all treated patients, a complete and persistent control of the inflammatory manifestations was observed with no further progression of the disease. At enrollment in the registry, patients showed a poorer health-related quality of life than healthy children in both physical and the psychosocial summary scores. Treatment was associated with a dramatic and sustained amelioration of a variety of measures of poor quality of life, particularly in those concerning the global health perception, bodily pain-discomfort, and other physical domains.

Conclusions

Long-term IL-1 blockade produces a significant and persistent improvement in the clinical manifestations associated with the disease and on the overall quality of life.

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

References (19)

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    See below for a more extensive description of ocular finding in the different AIDs. A total of 680 patients were found to have CAPS with ocular involvement in 74 papers [9,11,17–88]. The mean age at disease onset and at ocular manifestations onset were respectively 67.7 and 145.8 months.

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Supported in part by by Italian Telethon (GGP09127). The authors declare no conflicts of interest.

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