AB1264 CLINICAL, DEMOGRAPHIC CHARACTERISTICS AND TREATMENT RESPONSES OF PATIENTS WITH CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME

Abstract

BackgroundCryopyrin-associated periodic syndrome (CAPS) is a rare autoinflammatory disease that inherited autosomal dominantly. The disease occurs as a result of mutations in the NLRP3 gene, which encodes cryopyrin (1). It has three clinical presentations called familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disorder (NOMID) or chronic infantile neurologic, cutaneous and articular (CINCA) syndrome (2). FCAS is the mildest form of this spectrum, characterized by cold-induced fever, urticarial rash, joint complaints, conjunctivitis, and systemic inflammation.ObjectivesIn our study, we aimed to evaluate the clinical and demographic characteristics and treatment responses of CAPS patients.MethodsWe retrospectively enrolled 44 pediatric patients who were diagnosed with CAPS admitted to Umraniye Training and Research Hospital, Pediatric Rheumatology Clinic, Istanbul, Turkey, June 2016 - December 2021. Medical records were analyzed for clinical presentation, disease associations, physical examination, and laboratory findings.ResultsA total of 44 patients (41 FCAS, 3 MWS) were included in the study. Of the patients, 19 were girls and 25 were boys. The median age of the patients was 10.5 (1.4-20.6) years. The median age of onset of attack was 3 years (1 month-14.6 year), age at diagnosis was 7.9 years (13 months-18 years), and the follow-up period was 2.2 years (4 months-5.2 years). There were a history of consanguinity in 9 (20.4%) patients. Twelve (27.2%) patients had the autoinflammatory disease in their families. The most common clinical findings were fever (100%), joint pain (86.4%), and abdominal pain (79.5%). Afterward, rash (56.8%), myalgia (45.5%), conjunctivitis (31.8%), arthritis (31.8%), diarrhea (31.8%), chest pain (27.3%), headache (25%), and vomiting (22.7%) were other findings accompanying the attacks. Thirty-nine (88.6%) patients had mutations in the NLRP3 gene. No mutation was detected in five (11.4%) patients. The most common Q705K mutation was detected in 28 (71.4%) patients. Forty-two (95.4%) patients were started on colchicine treatment. Biological therapy was started in 9 (21.4%) patients whose attacks continued despite colchicine. Anakinra and canakinumab, which are anti-interleukin 1 agents, were used as biologic therapy. FCAS patients had an adequate response to standard doses of canakinumab therapy, while MWS patients required significantly higher doses of canakinumab therapy.ConclusionAlthough familial Mediterranean fever and PFAPA are the most frequent periodic fever syndromes in our country, CAPS should be included in the differential diagnosis in patients with recurrent fever complaints and accompanying urticaria-like rash and conjunctivitis. In our clinical experience, some FCAS patients show significant clinical benefits with colchicine treatment. We think that it would be beneficial to try colchicine treatment before starting biologic therapy in FCAS patients.