{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:20:02Z","timestamp":1787502002390,"version":"build-2736575974"},"reference-count":41,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,1,21]],"date-time":"2025-01-21T00:00:00Z","timestamp":1737417600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Kirsten and Freddy Johansens Fund"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomedicines"],"abstract":"<jats:p>Background\/Objectives: Fabry disease is an X-linked lysosomal storage disease. Earlier studies have mentioned dizziness\/balance issues and vestibular involvement as a symptom of Fabry disease. Research on the matter remains scarce. This pilot study aims to show the prevalence of dizziness\/balance issues and whether it is due to peripheral, central, or other factors. Methods: A Dizziness Handicap Inventory, with added questions, was sent out to 91 Fabry patients to estimate the prevalence of dizziness\/balance issues. Additionally, this study reports analyses from eight Fabry patients with self-reported dizziness\/balance issues who were offered referrals for in-depth investigations of their condition. All eight underwent a comprehensive oto-neurological examination, Videonystagmography, a Video Head impulse test, vestibular myogenic evoked potential, and audiometry. Results: A total of 55 of the 91 patients with Fabry disease answered the survey. Of these, 78.2% felt symptoms of dizziness\/balance issues. The most common form of dizziness\/balance issues was short-lasting attacks. All eight ENT-examined patients had normal outer and middle ear conditions. Five of eight Fabry patients had abnormal results in the optokinetic test and audiometry. Conclusions: The survey showed a high prevalence of dizziness\/balance issues in Fabry patients. The abnormal optokinetic test suggested a central cause and was the only objective measurement we found that could lead to an explanation for dizziness\/balance issues. Polypharmacy was present in all eight examined patients and could also explain the dizziness\/balance issues in Fabry patients. There is no other clear pattern regarding the characteristics of dizziness\/balance issues in Fabry patients in this exploratory study.<\/jats:p>","DOI":"10.3390\/biomedicines13020249","type":"journal-article","created":{"date-parts":[[2025,1,21]],"date-time":"2025-01-21T04:19:51Z","timestamp":1737433191000},"page":"249","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Dizziness in Fabry Disease"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-2123-2779","authenticated-orcid":false,"given":"Aslak Broby","family":"Johansen","sequence":"first","affiliation":[{"name":"Copenhagen Hearing and Balance Center, Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, 2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5903-3355","authenticated-orcid":false,"given":"Ulla","family":"Feldt-Rasmussen","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Endocrinology, Rigshospitalet, 2100 Copenhagen, Denmark"},{"name":"Institute of Clinical Medicine, Faculty of Health and Medical Sciences, Copenhagen University, 2200 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mads","family":"Klokker","sequence":"additional","affiliation":[{"name":"Copenhagen Hearing and Balance Center, Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, 2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1016\/S0140-6736(08)61589-5","article-title":"Fabry\u2019s disease","volume":"372","author":"Zarate","year":"2008","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1097\/01.gim.0000237866.70357.c6","article-title":"Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement","volume":"8","author":"Eng","year":"2006","journal-title":"Genet. 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