TY - JOUR
T1 - Cryopyrin-associated periodic syndromes
T2 - Otolaryngologic and audiologic manifestations
AU - Ahmadi, Neda
AU - Brewer, Carmen C.
AU - Zalewski, Christopher
AU - King, Kelly A.
AU - Butman, John A.
AU - Plass, Nicole
AU - Henderson, Cailin
AU - Goldbach-Mansky, Raphaela
AU - Kim, H. Jeffrey
N1 - Funding Information:
Funding source: This work was supported by the intramural research programs of the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the National Institute on Deafness and Other Communication Disorders at the NIH.
Funding Information:
Sponsorships: This work was sponsored by the intramural research programs of the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the National Institute on Deafness and Other Communication Disorders at the NIH.
PY - 2011/8
Y1 - 2011/8
N2 - 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.
AB - 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.
KW - Chronic infantile neurological cutaneous and articular syndrome
KW - Cryopyrin-associated periodic syndromes
KW - Familial cold autoinflammatory syndrome
KW - Muckle-Wells syndrome
KW - Neonatal-onset multisystem inflammatory disease
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U2 - 10.1177/0194599811402296
DO - 10.1177/0194599811402296
M3 - Article
C2 - 21493283
AN - SCOPUS:84855939469
SN - 0194-5998
VL - 145
SP - 295
EP - 302
JO - Otolaryngology - Head and Neck Surgery
JF - Otolaryngology - Head and Neck Surgery
IS - 2
ER -