Cryopyrin-associated periodic syndromes: Otolaryngologic and audiologic manifestations

Neda Ahmadi, Carmen C. Brewer, Christopher Zalewski, Kelly A. King, John A. Butman, Nicole Plass, Cailin Henderson, Raphaela Goldbach-Mansky, H. Jeffrey Kim

Research output: Contribution to journalArticlepeer-review

68 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)295-302
Number of pages8
JournalOtolaryngology - Head and Neck Surgery
Issue number2
StatePublished - Aug 2011
Externally publishedYes


  • Chronic infantile neurological cutaneous and articular syndrome
  • Cryopyrin-associated periodic syndromes
  • Familial cold autoinflammatory syndrome
  • Muckle-Wells syndrome
  • Neonatal-onset multisystem inflammatory disease

ASJC Scopus subject areas

  • Surgery
  • Otorhinolaryngology


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