OBJECTIVE: Cryopyrin-associated periodic syndromes (CAPS) represent a spectrum of CIAS1 gene-mediated autoinflammatory diseases characterized by recurrent systemic inflammation. The clinical spectrum of CAPS varies from mild to severe and includes the syndromes historically described as familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). This article presents the largest cohort of patients with CAPS. The objective is to describe the pathogenesis, otolaryngologic, and audiologic manifestations of CAPS. STUDY DESIGN: Prospective (2003-2009). SETTING: National Institutes of Health. SUBJECTS AND METHODS: Fifty-seven patients with a diagnosis of CAPS were identified (31 NOMID, 11 NOMID/MWS, 9 MWS, and 6 FCAS). Comprehensive data regarding clinical manifestations, audiologic phenotype, and fluid attenuation inversion recovery MRI (FLAIR-MRI) of the brain and inner ear were obtained. RESULTS: Complete audiologic data obtained on 70% of ears revealed conductive hearing loss in 4 (11%) NOMID ears and mixed hearing loss in 5 (13%) NOMID and 2 (14%) NOMID/MWS ears. Sensorineural hearing loss (SNHL), worse in higher frequencies, was the most common type of hearing loss and was present in 23 (61%) NOMID, 10 (71%) NOMID/MWS, and 4 (33%) MWS ears. All of the patients with FCAS had normal hearing except 2, who had SNHL from 4 to 8 kHz. On FLAIR-MRI sequence, cochlear enhancement was noted in 26 of 29 (90%) NOMID, 6 of 11 (55%) NOMID/MWS, 3 of 9 (33%) MWS, and 1 of 6 (17%) FCAS patients and was significantly associated with the presence of hearing loss. Maxillary sinus hypoplasia and mucosal thickening were found in 39% and 86% of the cohort, respectively. CONCLUSION: CIAS1 pathway–mediated CAPS is associated with unregulated autoinflammation mediated by interleukin-1 in the cochlea and hearing loss. Timely diagnosis is crucial to initiate early treatment with interleukin-1 receptor antagonists.
OBJECTIVE:Cryopyrin-associated periodic syndromes (CAPS) represent a spectrum of CIAS1 gene-mediated autoinflammatory diseases characterized by recurrent systemic inflammation. The clinical spectrum of CAPS varies from mild to severe and includes the syndromes historically described as familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). This article presents the largest cohort of patients with CAPS. The objective is to describe the pathogenesis, otolaryngologic, and audiologic manifestations of CAPS. STUDY DESIGN: Prospective (2003-2009). SETTING: National Institutes of Health. SUBJECTS AND METHODS: Fifty-seven patients with a diagnosis of CAPS were identified (31 NOMID, 11 NOMID/MWS, 9 MWS, and 6 FCAS). Comprehensive data regarding clinical manifestations, audiologic phenotype, and fluid attenuation inversion recovery MRI (FLAIR-MRI) of the brain and inner ear were obtained. RESULTS: Complete audiologic data obtained on 70% of ears revealed conductive hearing loss in 4 (11%) NOMID ears and mixed hearing loss in 5 (13%) NOMID and 2 (14%) NOMID/MWS ears. Sensorineural hearing loss (SNHL), worse in higher frequencies, was the most common type of hearing loss and was present in 23 (61%) NOMID, 10 (71%) NOMID/MWS, and 4 (33%) MWS ears. All of the patients with FCAS had normal hearing except 2, who had SNHL from 4 to 8 kHz. On FLAIR-MRI sequence, cochlear enhancement was noted in 26 of 29 (90%) NOMID, 6 of 11 (55%) NOMID/MWS, 3 of 9 (33%) MWS, and 1 of 6 (17%) FCASpatients and was significantly associated with the presence of hearing loss. Maxillary sinus hypoplasia and mucosal thickening were found in 39% and 86% of the cohort, respectively. CONCLUSION:CIAS1 pathway–mediated CAPS is associated with unregulated autoinflammation mediated by interleukin-1 in the cochlea and hearing loss. Timely diagnosis is crucial to initiate early treatment with interleukin-1 receptor antagonists.
Authors: Keith M Hull; Nitza Shoham; Jae Jin Chae; Ivona Aksentijevich; Daniel L Kastner Journal: Curr Opin Rheumatol Date: 2003-01 Impact factor: 5.006
Authors: A M Prieur; C Griscelli; F Lampert; H Truckenbrodt; M A Guggenheim; D J Lovell; P Pelkonnen; J Chevrant-Breton; B M Ansell Journal: Scand J Rheumatol Suppl Date: 1987
Authors: Raphaela Goldbach-Mansky; Natalie J Dailey; Scott W Canna; Ana Gelabert; Janet Jones; Benjamin I Rubin; H Jeffrey Kim; Carmen Brewer; Christopher Zalewski; Edythe Wiggs; Suvimol Hill; Maria L Turner; Barbara I Karp; Ivona Aksentijevich; Frank Pucino; Scott R Penzak; Margje H Haverkamp; Leonard Stein; Barbara S Adams; Terry L Moore; Robert C Fuhlbrigge; Bracha Shaham; James N Jarvis; Kathleen O'Neil; Richard K Vehe; Laurie O Beitz; Gregory Gardner; William P Hannan; Robert W Warren; William Horn; Joe L Cole; Scott M Paul; Philip N Hawkins; Tuyet Hang Pham; Christopher Snyder; Robert A Wesley; Steven C Hoffmann; Steven M Holland; John A Butman; Daniel L Kastner Journal: N Engl J Med Date: 2006-08-10 Impact factor: 91.245
Authors: Hiroshi Nakanishi; Yoshiyuki Kawashima; Kiyoto Kurima; Jae Jin Chae; Astin M Ross; Gineth Pinto-Patarroyo; Seema K Patel; Julie A Muskett; Jessica S Ratay; Parna Chattaraj; Yong Hwan Park; Sriharsha Grevich; Carmen C Brewer; Michael Hoa; H Jeffrey Kim; John A Butman; Lori Broderick; Hal M Hoffman; Ivona Aksentijevich; Daniel L Kastner; Raphaela Goldbach-Mansky; Andrew J Griffith Journal: Proc Natl Acad Sci U S A Date: 2017-08-28 Impact factor: 11.205