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

Abstract

BackgroundMuckle-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.MethodsA 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.ResultsA 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.ConclusionsEarly 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.Electronic supplementary materialThe online version of this article (doi:10.1186/s12969-015-0041-9) contains supplementary material, which is available to authorized users.

Systematic literature review of efficacy/effectiveness and safety of current therapies for the treatment of cryopyrin-associated periodic syndrome, hyperimmunoglobulin D syndrome and tumour necrosis factor receptor-associated periodic syndrome

“…Other observational studies have also shown the effectiveness of canakinumab in improving the Disease Activity Score (DAS), 57 65 Autoinflammatory Disease Activity Index (AIDAI) score, 36 83 complete/partial resolution of symptoms, 38 45 88 improvement in physician/patient assessed PROs 36 65 85 and the Child Health Assessment Questionnaire (CHAQ). 65 Of the eight studies assessing other outcomes, 23 42 45 47 55– 57 65 treatment with canakinumab was associated with improvement or stabilisation in neurological outcomes (eg, migrainous headache), 23 42 45 hearing loss, 23 42 55– 57 65 vision outcomes (eg, uveitis, conjunctivitis) 23 47 and musculoskeletal outcomes. 23…”

AAO : Autoimmune and Autoinflammatory (Disease) in Otology: What is New in Immune‐Mediated Hearing Loss

“… In a series of patients with MWS (52% of whom were children), 100% exhibited high‐frequency SNHL (equal to or above 6 kHz), whereas 74% were affected from 500 to 4,000 Hz, and all had normal caloric function. Interleukin‐1 inhibition resulted in stable or improved hearing in 96% of the patients, although improvement was noted in only 24% and was worsening in 4% . Interestingly, MWS may also comprise neurologic sequelae, including migraine, despite a negative magnetic resonance imaging; symptoms were controlled with IL‐1 antagonism .…”

Cryopyrin-Associated Periodic Fever Syndrome and the Nervous System

“…A recent study where CAPS patients underwent detailed auditory testing found that 100% of symptomatic CAPS patients had high frequency pure tone averages abnormalities, whilst 74% had an abnormal assessment focusing on standard frequencies (0.5–4 kHz) [ 26 ]. Encouragingly, treatment with IL-1 blockade resulted in improved or stable hearing in 91% of patients [ 26 ]. However, it is important to note that once sensorineural damage has occurred, hearing dysfunction is likely irreversible.…”