Antoine Asquier-Khati1, Wladimir Mauhin2, Guillaume Michel3, Adrien Gendre3, Cécile Durant4, Christian Lavigne5, Hélène Maillard6, Didier Lacombe7, Marjolaine Willems8, Olivier Lidove2, Agathe Masseau4. 1. Internal Medicine Department, Hotel-Dieu University Hospital, Nantes, France. antoine.asquierkhati@chu-nantes.fr. 2. Internal Medicine Department, Diaconesses-Croix Saint-Simon Hospital, Paris, France. 3. Otorhinolaryngoloy Department, Hotel-Dieu University Hospital, Nantes, France. 4. Internal Medicine Department, Hotel-Dieu University Hospital, Nantes, France. 5. Internal Medicine and Clinical Immunology Department, Angers University Hospital, Angers, France. 6. Internal Medicine and Clinical Immunology Department, Referral Centre for Rare Systemic Autoimmune Diseases North and Northwest of France, Lille University Hospital, Lille, France. 7. Medical Genetics Department, Bordeaux University Hospital, Bordeaux, France. 8. Department of Medical Genetics, Montpellier University Hospital, INSERM 1298 Institute for Neurosciences of Montpellier, Montpellier, France.
Abstract
PURPOSE: Fabry disease (FD) is a lysosomal storage disease responsible for cochleovestibular involvement. Exact prevalence and pathophysiological mechanisms behind ENT affections are still poorly known. Treating FD with enzyme replacement therapy (ERT) does not seem to significantly improve the ENT symptoms, while the impact of migalastat has yet to be determined. METHODS: We carried out a retrospective multi-centre study on 47 patients from the FFABRY cohort who had an ENT consultation in the context of their FD. The information collected were as follows: clinical examination, videonystagmoscopy, pure-tone speech audiometry, videonystagmography or VHIT (Video Head Impulse Test). Severe hearing loss was defined as greater than 70 dB. RESULTS: The median age of our cohort was 52 years with a non-negligible proportion of non-classic variants and female carriers. 72.3% of the patients complained of at least one of the following symptoms: hearing loss, tinnitus or vertigo. Pure-tone audiometry was abnormal in 61.7% of the patients (29/47), while speech audiometry was abnormal for 41.7% of the patients. The age of the patients and hypertrophic cardiomyopathy were significantly associated with the existence of an anomaly in pure-tone audiometry results. Severe hearing loss (> 70 dB) was significantly more common in male patients. DISCUSSION: Hearing loss is particularly frequent in FD and is not limited to classic phenotypes. Close ENT follow-up is essential for Fabry patients to detect those who might benefit from hearing aid. Further studies are needed to define the impact of migalastat on cochleovestibular symptoms.
PURPOSE: Fabry disease (FD) is a lysosomal storage disease responsible for cochleovestibular involvement. Exact prevalence and pathophysiological mechanisms behind ENT affections are still poorly known. Treating FD with enzyme replacement therapy (ERT) does not seem to significantly improve the ENT symptoms, while the impact of migalastat has yet to be determined. METHODS: We carried out a retrospective multi-centre study on 47 patients from the FFABRY cohort who had an ENT consultation in the context of their FD. The information collected were as follows: clinical examination, videonystagmoscopy, pure-tone speech audiometry, videonystagmography or VHIT (Video Head Impulse Test). Severe hearing loss was defined as greater than 70 dB. RESULTS: The median age of our cohort was 52 years with a non-negligible proportion of non-classic variants and female carriers. 72.3% of the patients complained of at least one of the following symptoms: hearing loss, tinnitus or vertigo. Pure-tone audiometry was abnormal in 61.7% of the patients (29/47), while speech audiometry was abnormal for 41.7% of the patients. The age of the patients and hypertrophic cardiomyopathy were significantly associated with the existence of an anomaly in pure-tone audiometry results. Severe hearing loss (> 70 dB) was significantly more common in male patients. DISCUSSION: Hearing loss is particularly frequent in FD and is not limited to classic phenotypes. Close ENT follow-up is essential for Fabry patients to detect those who might benefit from hearing aid. Further studies are needed to define the impact of migalastat on cochleovestibular symptoms.
Authors: Maarten Arends; Christoph Wanner; Derralynn Hughes; Atul Mehta; Daniel Oder; Oliver T Watkinson; Perry M Elliott; Gabor E Linthorst; Frits A Wijburg; Marieke Biegstraaten; Carla E Hollak Journal: J Am Soc Nephrol Date: 2016-12-15 Impact factor: 10.121
Authors: Alberto Ortiz; Dominique P Germain; Robert J Desnick; Juan Politei; Michael Mauer; Alessandro Burlina; Christine Eng; Robert J Hopkin; Dawn Laney; Aleš Linhart; Stephen Waldek; Eric Wallace; Frank Weidemann; William R Wilcox Journal: Mol Genet Metab Date: 2018-02-28 Impact factor: 4.797
Authors: Brendan N Putko; Kevin Wen; Richard B Thompson; John Mullen; Miriam Shanks; Haran Yogasundaram; Consolato Sergi; Gavin Y Oudit Journal: Heart Fail Rev Date: 2015-03 Impact factor: 4.214
Authors: Robert J Hopkin; John Bissler; Maryam Banikazemi; Lorne Clarke; Christine M Eng; Dominique P Germain; Roberta Lemay; Anna Tylki-Szymanska; William R Wilcox Journal: Pediatr Res Date: 2008-11 Impact factor: 3.756
Authors: Shanat Baig; Nicky C Edward; Dipak Kotecha; Boyang Liu; Sabrina Nordin; Rebecca Kozor; James C Moon; Tarekegn Geberhiwot; Richard P Steeds Journal: Europace Date: 2018-09-01 Impact factor: 5.214
Authors: Christine M Eng; Dominique P Germain; Maryam Banikazemi; David G Warnock; Christoph Wanner; Robert J Hopkin; Jan Bultas; Philip Lee; Katherine Sims; Scott E Brodie; Gregory M Pastores; Joerg M Strotmann; William R Wilcox Journal: Genet Med Date: 2006-09 Impact factor: 8.822
Authors: Elfrida R Benjamin; Maria Cecilia Della Valle; Xiaoyang Wu; Evan Katz; Farhana Pruthi; Sarah Bond; Benjamin Bronfin; Hadis Williams; Julie Yu; Daniel G Bichet; Dominique P Germain; Roberto Giugliani; Derralynn Hughes; Raphael Schiffmann; William R Wilcox; Robert J Desnick; John Kirk; Jay Barth; Carrolee Barlow; Kenneth J Valenzano; Jeff Castelli; David J Lockhart Journal: Genet Med Date: 2016-09-22 Impact factor: 8.822
Authors: Jennifer L Spiegel; Ivelina Stoycheva; Bernhard G Weiss; Mattis Bertlich; Tobias Rader; Martin Canis; Friedrich Ihler Journal: Eur Arch Otorhinolaryngol Date: 2022-08-15 Impact factor: 3.236