Auditory complications of Fabry disease: Challenges and therapeutic perspectives
DOI:
https://doi.org/10.33448/rsd-v14i6.49043Keywords:
Tinnitus, Hearing-loss, Alpha-Galactosidase.Abstract
Fabry Disease (FD) is a rare X-linked genetic disorder characterized by a deficiency of the enzyme alpha-galactosidase A, resulting in the accumulation of glycosphingolipids and multisystemic involvement. This study, based on an integrative literature review, aims to investigate the relationship between DM and auditory alterations such as tinnitus, vertigo, and sudden or progressive hearing loss. Data show that patients with FD have a significantly increased risk of cochleovestibular disorders due to underlying vascular pathology. Early audiological evaluation is essential, particularly in patients with renal, cardiac, or neurological complications. Enzyme replacement therapy (ERT) has proven effective in stabilizing disease progression and improving quality of life, with early initiation being recommended. The study highlights the importance of early diagnosis and systematic otolaryngological screening in individuals with FD.
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References
Arends, M., Wanner, C., Hughes, D. et al. (2017). Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc Nephrol, 28: 1631–41.
Casarin, S. T. et al. (2020). Tipos de revisão de literatura: considerações das editoras do Journal of Nursing and Health. Journal of Nursing and Health, 10 (5). https://periodicos.ufpel.edu.br/index.php/enfermagem/article/view/19924
Cicéran, A. & Maio, S. (2016). Cochleovestibular manifestations in Fabry disease. Journal of Inborn Errors of Metabolism and Screening, 4, 232640981666135.
Cheng, Y.-F., Xirasagar, S., Chen, C.-S., Niu, D.-M., & Lin, H.-C. (2022). Association of Fabry disease with hearing loss, tinnitus, and sudden hearing loss: A nationwide population-based study. Journal of Clinical Medicine, 11(24), 7396.
Dutra-Clarke, M., Tapia, D., Curtin, E., Rünger, D., Lee, G. K., Lakatos, A., Alandy-Dy, Z., Freedkin, L., Hall, K., Ercelen, N., Alandy-Dy, J., Knight, M., Pahl, M., Lombardo, D., & Kimonis, V. (2021). Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy. Molecular Genetics and Metabolism Reports, 26, 100700.
Eyermann, C., Raguin, T., Rohmer, D., Noël, E., & Charpiot, A. (2019). Cochleovestibular manifestations in Fabry disease: Importance of screening and systematic ENT evaluation. European Annals of Otorhinolaryngology, Head and Neck Diseases, 136(4), 273–9.
Holy, R., Hložková, T., Procházková, K., Kalfert, D., Hybnerová, F., Ebelová, D., Streubel, B., Chovanec, M., Gal, B., & Linhart, A. (2021). Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss. Journal of Applied Biomedicine, 19(1), 57–61.
Lenders, M. & Brand, E. (2021). Fabry disease: The current treatment landscape. Drugs, 81(6), 635–45.
Lenders, M., Canaan-Kühl, S., Krämer, J., Duning, T., Reiermann, S., Sommer, C., ... Brand, E. (2016). Patients with Fabry disease after enzyme replacement therapy dose reduction and switch: 2-year follow-up. Journal of the American Society of Nephrology, 27, 952–62.
Neumann, P., et al. (2013). Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry. Medicina, 73(5), 482–94.
Pereira A. S. et al. (2018). Metodologia da pesquisa científica. [free e-book]. Editora da UAB/NTE/UFSM.
Rocha, G. S., Ferrari, M. D., Balhester, M. V., Paz, O. T., Vagnini, L., Fonseca, J., Carneiro, Z. A., & Lourenço, C. M. (2021). Apresentação pediátrica da doença de Fabry: Sintomas comuns levando ao diagnóstico de uma doença rara. Revista Pediátrica SOPERJ, 21(4), 211–7.
Rodrigues, J., Azevedo, O., Sousa, N., Cunha, D., Mexedo, A. & Fonseca, R. (2018). Inner ear involvement in Fabry disease: Clinical and audiometric evaluation of a large cohort of patients followed in a reference centre. European Journal of Medical Genetics, 61(6), 341–7. https://doi.org/10.1016/j.ejmg.2018.01.006
Schiffmann, R. et al. (2017). Screening, diagnosis, and management of patients with Fabry disease: Conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) controversies conference. Kidney International, 91, 284–93.
Silva, C. A. et al. (2022). Consenso brasileiro de doença de Fabry: Recomendações de diagnóstico, triagem e tratamento. Comitê de Doenças Raras (Comdora) – SBN. Jornal Brasileiro de Nefrologia, 44(2), 249–67.
Soares, B. L. (2024). Avanços no diagnóstico da Doença de Fabry: Uma revisão de patentes dos últimos 20 anos (Trabalho de Conclusão de Curso de Graduação, Universidade Federal de Sergipe). Universidade Federal de Sergipe.
Storck, K., Stenzl, A., Regenbogen, C., Hofauer, B., & Knopf, A. (2024). Neuro-otological manifestations in Fabry disease – A retrospective single center study. HNO, 72(1), 16–24.
Suntjens, E., Dreschler, W. A., Hess-Erga, J., Skrunes, R., Wijburg, F. A., Linthorst, G. E., Tøndel, C., & Biegstraaten, M. (2017). Hearing loss in children with Fabry disease. Journal of Inherited Metabolic Disease, 40, 725–31.
Whybra, C., Kampmann, C., Krummenauer, F., Ries, M., Mengel, E., Miebach, E., Baehner, F., Kim, K., Bajbouj, M., Schwarting, A., Gal, A., & Beck, M. (2004). The Mainz Severity Score Index: A new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clinical Genetics, 65, 299–307.
Yang, T.-H., Xirasagar, S., Cheng, Y.-F., Chen, C.-S., & Lin, H.-C. (2024). Increased prevalence of peripheral vestibular disorder among patients with Fabry disease. Orphanet Journal of Rare Diseases, 19(1), 1–7.
Yazdanfard, P. D. W., Effraimidis, G., Madsen, C. V., Nielsen, L. H., Rasmussen, Å. K., Petersen, J. H., Sørensen, S. S., Køber, L., Abreu, V. H. F., & Larsen, V. A. (2022). Hearing loss in Fabry disease: A 16-year follow-up study of the Danish nationwide cohort. Molecular Genetics and Metabolism Reports, 31, 100841.
Zakaria, Y., Yahya, N. & Kissani, N. (2024). Cochleovestibular signs as the first manifestation of Fabry disease: A case report and literature review. Cureus, 16 (3), e22985.
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