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Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey

  • ORIGINAL ARTICLE
  • Published:
Journal of Inherited Metabolic Disease

Summary

Background: Hearing loss and tinnitus are common symptoms in Fabry disease and increase in prevalence with age. This study aimed to provide an epidemiological description of hearing impairment and tinnitus in children with Fabry disease in the Fabry Outcome Survey (FOS), an international database to assess the natural history of Fabry disease and the efficacy of enzyme replacement therapy with agalsidase alfa. Methods: Signs and symptoms questionnaires were completed for 543 children with Fabry disease. Pure-tone audiograms were obtained from 101 children (53 girls, 48 boys). Results: On questioning, 33% of the children (n = 179) reported subjective hearing impairment. However, when assessed by age-appropriate audiometry, only 19 of 101 patients (19%) had a persistent hearing loss at least one frequency. Of these, 14 had a high-frequency hearing loss, 4 a pan-frequency hearing loss, and 1 a pattern typical of noise-induced loss. Of the 101 children with audiometry, 44 complained of tinnitus. Only 2 children reported sudden hearing loss, which was not verified by audiometry. Children with tinnitus had greater disease severity scores. Conclusions: Hearing loss is a well-known clinical manifestation in patients with Fabry disease. It was reported in significant numbers of children in the FOS signs and symptoms questionnaire, but confirmed in only 19% by formal audiometry. The subjective hearing impairment may have been due to middle-ear effusions in many cases. Tinnitus is a well-recognized symptom in Fabry disease and can present in childhood. The presence of tinnitus correlated with overall disease severity.

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Abbreviations

ERT:

enzyme replacement therapy

FD:

Fabry disease

FOS:

Fabry Outcome Survey

FOS-MSSI:

Mainz Severity Score Index used in Fabry Outcome Survey

ISO:

International Organization for Standardization

PTA:

pure-tone average

SD:

standard deviation

WHO:

World Health Organization

References

  • Baguley DM, McFerran DJ (1999) Tinnitus in childhood. Int J Pediatr Otorhinolaryngol 49:99–105

    Article  CAS  PubMed  Google Scholar 

  • Davidson J, Hyde ML, Alberti PW (1989) Epidemiologic patterns in childhood hearing loss: a review. Int J Pediatr Otorhinolaryngol 17:239–266

    Article  CAS  PubMed  Google Scholar 

  • Fiellau-Nikolajsen M (1980) Tympanometry and middle ear effusion: a cohort-study in three-year-old children. Int J Pediatr Otorhinolaryngol 2:39–49

    Article  CAS  PubMed  Google Scholar 

  • Germain DP, Avan P, Chassaing A, Bonfils P (2002) Patients affected 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 3:10

    Article  PubMed  PubMed Central  Google Scholar 

  • Hajioff D, Hegemann S, Conti G et al. (2006) Agalsidase alpha and hearing in Fabry disease: data from the Fabry Outcome Survey. Eur J Clin Invest 36:663–667

    Article  CAS  PubMed  Google Scholar 

  • Hegemann S, Hajioff D, Conti G et al. (2006) Hearing loss in Fabry disease: data from the Fabry Outcome Survey. Eur J Clin Invest 36:654–662

    Article  CAS  PubMed  Google Scholar 

  • Holgers KM (2003) Tinnitus in 7-year-old children. Eur J Pediatr 162:276–278

    PubMed  Google Scholar 

  • Holgers KM, Juul J (2006) The suffering of tinnitus in childhood and adolescence. Int J Audiol 45:267–272

    Article  PubMed  Google Scholar 

  • Hughes GB, Freedman MA, Haberkamp TJ, Guay ME (1996) Sudden sensorineural hearing loss. Otolaryngol Clin North Am 29:393–405

    CAS  PubMed  Google Scholar 

  • ISO (1989) Acoustics – Audiometric test methods – Part 1: Basic pure tone air and bone conduction threshold audiometry. ISO 8253–1. Available online at: http://www.iso.org Accessed 21 Feb 2009

  • Keilmann A (2003) Inner ear function in children with Fabry disease. Acta Paediatr Suppl 92:31–32; discussion 27

    Article  CAS  PubMed  Google Scholar 

  • Lee CA, Mistry D, Uppal S, Coatesworth AP (2005) Otologic side effects of drugs. J Laryngol Otol 119:267–271

    CAS  PubMed  Google Scholar 

  • Limberger A, Beck M, Delgado-Sanchez S, Keilmann A (2007) [Hearing loss in patients with Fabry disease]. HNO 55:185–189

    Article  CAS  PubMed  Google Scholar 

  • Mehta A, Ricci R, Widmer U et al. (2004) Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34:236–242

    Article  CAS  PubMed  Google Scholar 

  • Ramaswami U, Whybra C, Parini R et al. (2006) Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 95:86–92

    Article  PubMed  Google Scholar 

  • Ries M, Ramaswami U, Parini R et al. (2003) The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr 162:767–772

    Article  PubMed  Google Scholar 

  • Ries M, Kim HJ, Zalewski CK et al. (2007) Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease. Brain 130:143–150

    Article  CAS  PubMed  Google Scholar 

  • Savastano M (2007) Characteristics of tinnitus in childhood. Eur J Pediatr 166:797–801

    Article  CAS  PubMed  Google Scholar 

  • Seifert E, Brosch S, Dinnesen AG et al. (2005) [Peripheral hearing disorders in childhood. Results of an evidenced based consensus conference]. HNO 53:376–382

    CAS  PubMed  Google Scholar 

  • WHO (1980) International classification of impairments, disabilities and handicaps: a manual of classification related to the consequences of disease. WHO, Geneva

    Google Scholar 

  • Whybra C, Kampmann C, Krummenauer F et al. (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. Clin Genet 65:299–307

    Article  CAS  PubMed  Google Scholar 

  • Whybra C, Baehner F, Baron K (2006) Measurement of disease severity and progression in Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G (eds) Fabry disease: perspectives from 5 years of FOS. Oxford PharmaGenesis Ltd, Oxford, 315–322

    Google Scholar 

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Acknowledgements

All FOS investigators have submitted data from their patients to the FOS database. See www.globaloutcomesurveys.com for complete list. The FOS database is under the independent control of the FOS International Board. Data collection and analysis in FOS is supported by Shire Human Genetic Therapies (HGT), Danderyd, Sweden. The sponsor had no role in the interpretation of data or writing of this report. Authors received support for travel in relation to the material described in this manuscript from Shire HGT. Editorial assistance to the authors was provided by Ingrid Edsman, Edsman Medical Writing. Funding for editorial assistance was provided by Shire HGT.

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Authors and Affiliations

  1. Department for ENT and Communication Disorders, University Hospital, Langenbeckstr. 1, 55101, Mainz, Germany

    A. Keilmann

  2. Department of Otolaryngology, Southmead Hospital, Bristol, UK

    D. Hajioff

  3. Department of Paediatric Endocrinology, Diabetes and Metabolism, Addenbrooke’s University Teaching Hospital, Cambridge, UK

    U. Ramaswami

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  1. A. Keilmann
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  2. D. Hajioff
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  3. U. Ramaswami
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on behalf of the FOS Investigators

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Correspondence to A. Keilmann.

Additional information

Communicating editor: Ed Wraith

Competing interests: None declared

References to electronic databases: Fabry disease: OMIM 301500.

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Keilmann, A., Hajioff, D., Ramaswami, U. et al. Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey. J Inherit Metab Dis 32, 739–744 (2009). https://doi.org/10.1007/s10545-009-1290-x

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  • DOI: https://doi.org/10.1007/s10545-009-1290-x

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