Hearing loss in patients with Fabry disease
Authors:
H. Nováčková 1,2; Š. Coufal 3
; M. Radilová 2; R. Kaňa 2
Authors‘ workplace:
Foniatrická klinika, VFN v Praze
1; Oddělení otorinolaryngologie, VFN v Praze
2; Laboratoř buněčné a molekulární imunologie, Mikrobio logický ústav AV ČR, v. v. i.
3
Published in:
Otorinolaryngol Foniatr, 72, 2023, No. 2, pp. 65-71.
Category:
Original Article
doi:
https://doi.org/10.48095/ccorl202365
Overview
Introduction: Fabry disease (FD) is a rare hereditary lysosomal storage disease aff ecting diff erent organs, including the cochlea-vestibular system. It can lead to premature hearing loss and tinnitus. Early and correct dia gnosis of FD is important with a view of available therapy. Purpose: The aim of this study is to evaluate the degree of hearing loss in patients with FD. Additionally, to compare diff erences between male and female patients as well as the diff erences of types of FD in patients with diff erent phenotypes. Methods: This is a retrospective study of patients that had been examined in our out-patient offi ce in the years 2016–2020. We used 7-tone pure-tone audiometry (0,125–8 kHz). We compared audiograms of patients right and left ear, calculated average Fowler percentage of hearing loss on left ear, right ear and combined. We compared combined Fowler percentage of hearing loss in diff erent types of FD based on the disease phenotype. Moreover, we compared the progress of hearing loss in time in patients that were examined in our offi ce more than once. Results: We examined 121 patients (55 male, 66 female) with dia gnosed FD. Female patients exhibited 48.5% hearing loss in the right ear and 50% in the left ear. Mixed hearing loss occurred in 1.5% of females in the group. We observed sensorineural hearing loss in 63.6% in the right ear and 65.5% in the left ear within male patients. Mixed hearing loss appeared in 1.8% of male patients. Combined mean Fowler percentage of hearing loss in females was 8.8 % and in males 14.8 %. Female patients with the classic type of FD had signifi cantly worse hearing than females with any other type of FD. This was not observed in the male group. Conclusion: Patients with FD in our group of patients had mostly sensorineural hearing loss. Hearing loss of male patients with FD was signifi cantly worse than females.
Keywords:
hearing loss – Fabry disease – phenotype – alpha-galactosidase – audiometry
Sources
Závěr Fabryho choroba je vzácné dědičné onemocně1. Anderson W. A case of angiokeratoma. Br J Dermatol 1898; 10: 113–117.
2. Fabry J. Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Arch Dermat 1898; 43; 187–200.
3. Pompen AW, Ruiter M, Wyers HJ. Angiokeratoma corporis diff usum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports. Acta Med Scand 1947; 128(3): 234–255. Doi: 10.1111/ j.0954-6820.1947. tb06596.x.
4. Brady RO, Gal AE, Bradley RM et al. Enzymatic defect in Fabry‘s disease. Ceramidetrihexosidase defi ciency. N Engl J Med 1967; 276(21):1163–1167. Doi: 10.1056/ NEJM196705252762 101.
5. Kelash F, Kujtan L, Mallidi PV. Acroparesthesia in a female: dia gnostic dilemma. Case Rep Med 2014; 2014: 172197. Doi: 10.1155/ 2014/ 172 197.
6. Reková P, Sedláková K, Dostálová G et al. Fabryho choroba, přehled problematiky a nejčastější neurologické projevy. Cesk Slov Neurol N 2018; 81(2): 156–163. Doi: 10.14735/ amcsnn2018 156.
7. Jurickova K, Jungova P, Petrovic R et al. Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment. J Pers Med 2022; 12(6): 922. Doi: 10.3390/ jpm12060922.
8. Arends M, Wanner C, Hughes D et al. Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. J Am Soc Nephrol 2017; 28(5): 1631–1641. Doi: 10.1681/ ASN.2016090964.
9. Michaud M, Mauhin W, Belmatoug N et al. When and How to Dia gnose Fabry Disease in Clinical Pratice. Am J Med Sci 2020; 360(6): 641–649. Doi: 10.1016/ j.amjms.2020.07.011.
10. Schiff mann R. Fabry disease. Handbook of Clinical Neurology 2015; 132: 231–248. Doi: 10.1016/ B978-0-444-62702-5.00017-2.
11. Smid BE, Hollak CE, Poorthuis BJ et al. Dia gnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical signifi cance. Clin Genet 2015; 88(2): 161–166. Doi: 10.1111/ cge.12449.
12. Ortiz A, Germain DP, Desnick RJ et al. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab 2018; 123(4): 416–427. Doi: 10.1016/ j.ymgme.2018.02.014.
13. El-Abassi R, Singhal D, England JD. Fabry‘s disease. J Neurol Sci 2014; 344(1–2): 5–19. Doi: 10.1016/ j.jns.2014.06.029.
14. Yazdanfard PD, Madsen CV, Nielsen LH et al. Signifi cant hearing loss in Fabry disease: Study of the Danish nationwide cohort prior to treatment. PLoS One 2019; 14(12): e0225071. Doi: 10.1371/ journal.pone.0225071.
15. Keilmann A, Hegemann S, Conti G (eds). Fabry disease and the ear. In: Mehta A, Beck M, Sunder-Plassmann G (eds). Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis 2006.
16. Rodrigues J, Azevedo O, Sousa N et al. Inner ear involvement in Fabry disease: Clinical and audiometric evaluation of large cohort of patients followed in a reference centre. Eur J MedGenet 2018; 61(6): 341–347. Doi: 10.1016/ j. ejmg.2018.01.006
. 17. Germain DP, Avan P, Chassaing A et al. Patients aff ected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med Genet 2002; 3: 10. Doi: 10.1186/ 1471-2350-3-10.
18. Schachern PA, Shea DA, Paparella MM et al. Otologic histopathology of Fabry‘s disease. Ann Otol Rhinol Laryngol 1989; 98(5 Pt 1): 359–363. Doi: 10.1177/ 000348948909800509.
19. McCaff erty EH, Scott LJ. Migalastat: A Review in Fabry Disease. Drugs 2019; 79(5): 543–554. Doi: 10.1007/ s40265-019-01090-4.
20. MacDermot KD, Holmes A, Miners AH. Anderson- Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38(11): 750–760. Doi: 10.1136/ jmg.38.11.750.
21. Eyermann C, Raguin T, Rohmer D et al. Cochleovestibular manifestations in Fabry disease: Importance of screening and systematic ENT evaluation. Eur Ann Otorhinolaryngol Head Neck Dis 2019; 136(4): 273–279. Doi: 10.1016/ j.anorl.2019.04.014.
22. Hegemann S, Hajioff D, Conti G et al. Hearing loss in Fabry disease: data from the Fabry Outcome Survey. Eur J Clin Invest 2006; 36(9): 654–662. Doi: 10.1111/ j.1365-2362.2006.01702.x.
23. Schuknecht HF, Gacek MR. Cochlear pathology in presbycusis. Ann Otol Rhinol Laryngol 1993; 102(1 Pt 2): 1–16. Doi: 10.1177/ 000 34894931020S101.
24. Holy R, Hlozkova T, Prochazkova K et al. Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss. J Appl Biomed 2021; 19(1): 57–61. Doi: 10.32725/ jab.2021.003.
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Otorhinolaryngology and Phoniatrics
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