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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2015

Open Access 01-12-2015 | Research article

Early detection of sensorineural hearing loss in Muckle-Wells-syndrome

Authors: Jasmin B. Kuemmerle-Deschner, Assen Koitschev, Pascal N. Tyrrell, Stefan K. Plontke, Norbert Deschner, Sandra Hansmann, Katharina Ummenhofer, Peter Lohse, Christiane Koitschev, Susanne M. Benseler

Published in: Pediatric Rheumatology | Issue 1/2015

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Abstract

Background

Muckle-Wells-syndrome (MWS) is an autoinflammatory disease characterized by systemic and organ-specific inflammation due to excessive interleukin (IL)-1 release. Inner ear inflammation results in irreversible sensorineural hearing loss, if untreated. Early recognition and therapy may prevent deafness. The aims of the study were to characterize the spectrum of hearing loss, optimize the otologic assessment for early disease and determine responsiveness to anti-IL-1-therapy regarding hearing.

Methods

A single center prospective cohort study of children and adults with MWS was performed. Standardized clinical, laboratory and otologic assessments including standard pure tone audiometry, additional high tone thresholds, vestibular organ testing, tinnitus evaluation and functional disability classes were determined serially. Pure-tone-average models were developed and evaluated. Risk factors for hearing loss and the impact of anti-IL-1 treatment were determined.

Results

A total of 23 patients with genetically confirmed MWS were included, of whom 63 % were females; 52 % were children. At baseline all patients had active MWS; 91 % reported clinically impaired hearing with 74 % having an abnormal standard assessment (0.5–4 kHz). In contrast, high frequency pure tone averages (HF-PTA) were abnormal in all symptomatic patients including those with early hearing loss (sensitivity 100 %). Females were at highest risk for hearing loss even after adjustment for age (p = 0.008). Treatment with IL-1 blockade resulted in improved or stable hearing in 91 % of patients.

Conclusions

Early inner ear inflammation in MWS primarily affects the high frequencies, beyond the range of standard otologic assessment tools. The HF-PTA is a sensitive tool to detect imminent hearing loss and monitor treatment response.
Appendix
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Metadata
Title
Early detection of sensorineural hearing loss in Muckle-Wells-syndrome
Authors
Jasmin B. Kuemmerle-Deschner
Assen Koitschev
Pascal N. Tyrrell
Stefan K. Plontke
Norbert Deschner
Sandra Hansmann
Katharina Ummenhofer
Peter Lohse
Christiane Koitschev
Susanne M. Benseler
Publication date
01-12-2015
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue 1/2015
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/s12969-015-0041-9

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