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We present a 70-year-old woman who was diagnosed 5 years ago with cryopyrin-associated periodic syndrome on the basis of her clinical picture (episodes of fever, urticarial and maculopapular rash, myalgia, arthralgia and/or arthritis, especially after cold exposure), and genetic testing which confirmed an NLRP3 missense mutation. Since then she has been treated with anti-interleukin-1 subcutaneous therapy (initially on anakinra daily and subsequently on canakinumab 150 mg every 8 weeks). This treatment resulted in complete resolution of disease signs and symptoms. …
Footnotes
Handling editor Josef S Smolen
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient and public involvement Patients and/or the public were not involved in the design, or conduct, or reporting, or dissemination plans of this research.
Patient consent for publication Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.