FRI0610 CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME: A SERIE OF CASES IN A ADULT’S PATIENTS COHORT WITH AUTOINFLAMMATORY SYNDROME IN A THIRD LEVEL HOSPITAL
Authors: Alberto Ruiz Román, Salvador García Morillo, Marco Montes Cano, Clara Aguilera Cros, Esteban Rubio Romero, Ricardo Gil Velez
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background</h3> The Cryopyrin-associated Periodic Syndrome (CAPS) or cryopyrinopathies are part of the spectrum of autoinflammatory diseases. The term cryopyrinopathy encompasses three clinical entities such as: CINCA/NOMID (chronic infantile neurologic, cutaneous and articular/neonatal onset multisystem inflammatory disease), Muckle-Wells disease and FCAS (familial cold-associated periodic syndrome). There are three different diseases that would be part of the same clinical spectrum, ranging from CINCA/NOMID (more serious) to FCAS (the less severe). It is more frequent in pediatric age although they can also be observed in adulthood. They are characterized by mutations in the NLRP3 gene and have an autosomal dominant inheritance pattern <h3>Objectives</h3> To describe the clinical characteristics and genetic variants of a cohort of patients in adulthood diagnosed with cryopyrinopathy and with follow-up in a 3rd level hospital <h3>Methods</h3> Retrospective descriptive study in adults patients with diagnosis of cryopyrinopathy since 2013 (year of introduction of genetic tests in the hospital laboratory) until now. The data was obtained from the review of medical records. All patients with mutations in NLRP3 gene and clinically compatible with this diagnosis were reviewed. <h3>Results</h3> Of a total of 44 patients in adulthood diagnosed with periodic fever syndromes (FMF, TRAPS, cryopyrinopathies, HIDS) and compatible genetic mutations, 7 patients (15.9%) were diagnosed with cryopyrinopathies, presenting 6 of them (13, 6%) mutations in NLRP3 gene. 1 patient was diagnosed with Muckle Wells based on clinical criteria without genetic test. 6 patients (13.6%) were women. 4 patients (9.1%) presented mutations in heterozygosis in exon 3 of NLRP3 gene (p.V198M). 1 patient presented heterozygous mutation in exon 3 of NLRP3 gene (p.R260W) and another patient presented a mutation in heterozygosis in exon 3 of the NLRP3 gene (p.S726G). The mean age at diagnosis was 38 years (IR 13-71 years). The totality of patients diagnosed with cryopyrinopathy showed elevation of acute phase reactants. 6 patients (13.6%) presented fever, joint symptoms (arthralgias and/or arthritis) and myalgias. 4 patients (9.09%) showed cutaneous involvement in the form of urticarial rash. 4 patients (9.09%) showed neurosensory deafness since childhood. 3 patients (6.8%) presented ocular involvement in form of conjunctivitis and/or uveitis. In 3 cases (6.8%), antiIL-1 (anakinra) or anti-TNF were used. <h3>Conclusion</h3> Cryopirinopathies are autoinflammatory diseases that occur mainly in the pediatric age, but there are also cases in adulthood. We must consider its diagnosis in those cases with periodic fever, arthralgia or arthritis, sensorineural deafness, APR elevation and urticarial rash. The genetic diagnosis will help us to confirm the diagnosis and avoid a delay in it. <h3>Disclosure of Interests</h3> None declared