Audiometric characteristics of a Dutch family with Muckle-Wells syndrome

Weegerink, N.J.D.; Schraders, Margit; Leijendeckers, Joop M.; Slieker, K.; Huygen, P.L.M.; Hoefsloot, Lies H.; Oostrik, Jaap; Pennings, Ronald J.E.; Simon, Anna; Snik, A.; Kremer, Hannie; Kunst, Henricus P. M.

doi:10.1016/j.heares.2011.07.006

Cited by 12 publications

(15 citation statements)

References 51 publications

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“…Prevention of deafness as a result of inner ear inflammation in children and adults is a key task when treating patients with MWS. Anti-IL-1 therapy was effective in stabilizing progression of hearing loss in this cohort, similarly to what was reported by others caring for patients with CAPS [ 15 , 32 – 34 ]. In our study, reversibility of inner ear disease was found to follow a characteristic pattern with early improvement in the high frequencies.…”

Section: Discussionsupporting

confidence: 86%

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

et al. 2015

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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.

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Section: Discussionsupporting

confidence: 86%

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

et al. 2015

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“…The ARTA of W07-1001 is shown in Fig. 3B (19). In combination with the auditory characteristics of DFNA34, HL associated with NLRP3 mutations has been characterized by bilateral progressive sensorineural HL initially affecting the high frequencies, although the age at onset and the severity have been variable.…”

Section: Discussionmentioning

confidence: 99%

“…Age-related typical audiograms (ARTAs) of family LMG113 with DFNA34 HL and family W07-1001 with Muckle-Wells syndrome (19). (A) In family LMG113, data was only available for subjects in the 2nd decade of life and older.…”

Section: Figmentioning

confidence: 99%

Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3 Mutation and Cochlear Autoinflammation

Nakanishi¹,

Kawashima²,

Kurima³

et al. 2018

Otology &Amp; Neurotology

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“…• Muckle-Wells syndrome: a combination of wheals, deafness, and amyloidosis, characterized by sensorineural deafness, recurrent urticaria, fever, and arthritis [8]. …”

Section: Definition and Classificationmentioning

confidence: 99%

Diagnosis and Treatment of Urticaria and Angioedema: A Worldwide Perspective

Sánchez‐Borges

Asero

Ansotegui³

et al. 2012

World Allergy Organization Journal

180

111

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Urticaria and angioedema are common clinical conditions representing a major concern for physicians and patients alike. The World Allergy Organization (WAO), recognizing the importance of these diseases, has contributed to previous guidelines for the diagnosis and management of urticaria. The Scientific and Clinical Issues Council of WAO proposed the development of this global Position Paper to further enhance the clinical management of these disorders through the participation of renowned experts from all WAO regions of the world. Sections on definition and classification, prevalence, etiology and pathogenesis, diagnosis, treatment, and prognosis are based on the best scientific evidence presently available. Additional sections devoted to urticaria and angioedema in children and pregnant women, quality of life and patient-reported outcomes, and physical urticarias have been incorporated into this document. It is expected that this article will supplement recent international guidelines with the contribution of an expert panel designated by the WAO, increasing awareness of the importance of urticaria and angioedema in medical practice and will become a useful source of information for optimum patient management worldwide.

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Audiometric characteristics of a Dutch family with Muckle-Wells syndrome

Cited by 12 publications

References 51 publications

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

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

Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3 Mutation and Cochlear Autoinflammation

Diagnosis and Treatment of Urticaria and Angioedema: A Worldwide Perspective

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