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Clinical Rheumatology 2020-Jul

A case of cryopyrin-associated periodic fever syndrome during canakinumab administration complicated by inflammatory bowel disease

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Yuichi Yamasaki
Tomohiro Kubota
Syuji Takei
Hiroyuki Imanaka
Yukiko Nonaka
Yoshifumi Kawano

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요약

Cryopyrin-associated periodic fever syndrome (CAPS) is a highly debilitating disorder, which is characterized by unregulated interleukin-1β production driven by autosomal dominantly inherited mutations in the NLRP3 gene. Patients with CAPS often present with early-onset episodes of fever and rash. These patients also present with variable systemic signs and symptoms, such as arthritis, sensorineural hearing loss, chronic aseptic meningitis, and skeletal abnormalities, but minimal gastrointestinal symptoms. Recently, effective therapies for CAPS targeted against interleukin-1 have become available. We report a case of a young Japanese woman with CAPS who developed inflammatory bowel disease during canakinumab therapy. The patient had colostomy after intestinal perforation and changed canakinumab to infliximab. To the best of our knowledge, this is the first report of a case of inflammatory bowel disease secondary to CAPS complicated by gastrointestinal symptoms and arthritis which canakinumab could not control. Patients with CAPS who have symptoms that cannot be controlled by canakinumab should be considered for possible co-morbidities.

Keywords: Canakinumab; Cryopyrin-associated periodic fever syndrome; Inflammatory bowel disease; Infliximab.

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