What question did this study set out to answer?

To explore a novel mutation in the NLRP3 gene causing abdominal symptoms associated with cryopyrin-associated periodic syndrome.

March 19, 2026Open Access

A case of cryopyrin-associated periodic syndrome presenting with abdominal symptoms due to a novel mutation NLRP3 p.Ile257Met

YKYo KomatsuIwate Medical University TOTomofumi OizumiIwate Medical University SYShunichi YanaiIwate Medical University

Key Points

To explore a novel mutation in the NLRP3 gene causing abdominal symptoms associated with cryopyrin-associated periodic syndrome.
Detailed clinical evaluation of a 24-year-old female patient
Genetic testing for mutations in NLRP3
Administration of canakinumab, a monoclonal antibody targeting IL-1β
Identification of the p.Ile257Met mutation in NLRP3
Complete resolution of abdominal symptoms and periodic fever after treatment
Persistence of sensorineural hearing loss despite treatment with canakinumab

Abstract

A 24-year-old female patient with a 4-year history of recurrent abdominal pain, diarrhea, periodic fever and elevated C-reactive protein was referred to our institution. Colonoscopy, esophago-gastro-duodenoscopy, capsule endoscopy and contrast-enhanced CT showed no significant findings. Because she and her mother had sensorineural hearing loss, a diagnosis of cryopyrin-associated periodic syndrome was suspected. Genetic testing of the patient and her mother revealed a candidate germline variant of NLRP3. The patient was commenced on subcutaneous 150 mg canakinumab, a fully human monoclonal antibody targeting IL-1β, at a dose of 150 mg every 8 weeks, which resulted in the persistence of sensorineural hearing loss but led to the complete disappearance of her abdominal symptoms and periodic fever.

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