Background: Cryopyrin-associated periodic syndrome (CAPS) is a rare disease. Knowledge on the quality of life (QoL) and the disease's societal impact is limited. Canakinumab is used in increasing frequency for the treatment of CAPS. Methods: Observational study in Dutch CAPS patients. Patients completed questionnaires regarding treatment with canakinumab at baseline and retrospectively. Quality of life was assessed using the EQ-5D-5L in adults and CHQ-PF50 in children. Impact on work and school was assessed. Caregivers' quality of life was assessed using the CarerQol. Results: Mean quality of life scores during treatment with canakinumab were 0.769 (EQ-5D-5L), 51.1 (CHQ-P) and 57-1 (CHQ-M). Most patients experienced problems on the pain/discomfort dimension. Higher disease activity and the presence of complications negatively influenced QoL. Half of the patients with a paid job reported absenteeism from work due to CAPS, for an average of 8.7 days in a 4-week period. All schoolgoing patients (N = 5) reported absence from school due to CAPS, for an average of 2.9 days. Caregivers reported gaining a lot fulfillment from providing care for their family members. Conclusion: QoL during treatment is lower than in the general Dutch population. CAPS leads to productivity loss and absenteeism from school, and impacts the quality of life in informal caregivers.

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Keywords Anakinra, Canakinumab, Chronic infantile neurologic cutaneous and arthritis syndrome, Cryopyrin-associated periodic syndrome, Muckle Wells syndrome, Neonatal onset multisystem inflammatory disease, Quality of life, Societal impact
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Journal Orphanet journal of rare diseases
Mulders-Manders, C.M. (Catharina M.), Kanters, T.A, van Daele, P.L.A, Hoppenreijs, E.P.A.H, Legger, G.E. (G. Elizabeth), van Laar, J.A.M, … van Hakkaart-van Roijen, L. (2018). Decreased quality of life and societal impact of cryopyrin-associated periodic syndrome treated with canakinumab: A questionnaire based cohort study. Orphanet journal of rare diseases, 13(1). doi:10.1186/s13023-018-0799-1