ArticleOrphanet journal of rare diseases2018
Characterization of vertigo and hearing loss in patients with Fabry disease.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Impact of enzyme replacement therapy on hearing sensitivity in Fabry disease: A systematic review.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Pooled it
- Review
- Neuro-otological findings in fabry disease: prominent oculomotor dysfunction and selective vestibular involvement.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Article
- Multidisciplinary Care Model as a Center of Excellence for Fabry Disease: A Practical Guide to Diagnosis and Management by Clinical Specialty in South Korea.Journal of clinical medicine · 2025Review
- Dizziness in Fabry Disease.Biomedicines · 2025Article
- Increased prevalence of peripheral vestibular disorder among patients with Fabry disease.Orphanet journal of rare diseases · 2024Article
- Article
- Investigation of ocular involvement in patients with Fabry disease.Annals of medicine · 2023Article
- Association of Fabry Disease with Hearing Loss, Tinnitus, and Sudden Hearing Loss: A Nationwide Population-Based Study.Journal of clinical medicine · 2022Article
- Development and validation of a disease-specific quality of life scale for adult patients with Fabry disease in Japan.Journal of patient-reported outcomes · 2022Article
- Translation of quality of life scale for pediatric patients with Fabry disease in Japan.Molecular genetics and metabolism reports · 2022Article
- Fabry's Disease: The Utility of a Multidisciplinary Screening Approach.Life (Basel, Switzerland) · 2022Article
- Cochleovestibular involvement in patients with Fabry disease: data from the multicenter cohort FFABRY.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2022Article
- Platelet and myeloid cell phenotypes in a rat model of Fabry disease.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss.Journal of applied biomedicine · 2021Article
- Hot topics in Fabry disease.Postgraduate medical journal · 2018Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFabry Disease (FD) is an X-linked hereditary lysosomal storage disorder which leads to a multisystemic intralysosomal accumulation of globotriaosylceramid (Gb3). Besides prominent renal and cardiac organ involvement, patients commonly complain about vestibulocochlear symptoms like high-frequency hearing loss, tinnitus and vertigo. However, comprehensive data especially on vertigo remain scarce. The aim of this study was to examine the prevalence and characteristics of vertigo and hearing loss in patients with FD, depending on renal and cardiac parameters and get hints about the site and the pattern of the lesions.
methodsSingle-center study with 57 FD patients. Every patient underwent an oto-rhino-laryngological examination as well as videonystagmography and vestibular evoked myogenic potentials (VEMPs) and audiological measurements using pure tone audiometry and auditory brainstem response audiometry (ABR). Renal function was measured by eGFR, cardiac impairment was graduated by NYHA class.
resultsMore than one out of three patients (35.1%) complained about hearing loss, 54.4% about vertigo and 28.1% about both symptom. In 74% a sensorineural hearing loss of at least 25 dB was found, ABR could exclude any retrocochlear lesion. Caloric testing showed abnormal values in 71.9%, VEMPs were pathological in 68%. A correlation between the side or the shape of hearing loss and pathological vestibular testing could not be revealed.
conclusionsHearing loss and vertigo show a high prevalence in FD. While hearing loss seems due to a cochlear lesion, peripheral vestibular as well as central nervous pathologies cause vertigo. Thus, both the site of lesion and the pathophysiological patterns seem to differ.
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