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Hearing loss in children with Fabry disease

E Suntjens1, W A Dreschler2, J Hess-Erga3

  • 1Department of Endocrinology and Metabolism and Amsterdam Lysosome Center 'Sphinx', Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

Journal of Inherited Metabolic Disease
|June 2, 2017
PubMed

Insights

Hearing loss (HL) affects a minority of children with Fabry disease (FD), but their hearing is poorer than normal, especially at high frequencies. Early treatment trials should monitor ultra-high frequency hearing in pediatric FD patients.

Area of Science:

  • Genetics and rare diseases
  • Pediatric audiology
  • Otolaryngology

Background:

  • Hearing loss (HL) is a known complication of Fabry disease (FD), but data in children are limited.
  • Previous studies primarily focused on adult patients with FD.
  • This study addresses the gap in knowledge regarding hearing sensitivity in pediatric FD patients.

Purpose of the Study:

  • To investigate the presence and characteristics of hearing loss in children with Fabry disease.
  • To compare hearing sensitivity in pediatric FD patients to healthy children.
  • To analyze the natural course of hearing sensitivity in children with FD.

Main Methods:

  • Retrospective analysis of audiograms from Dutch and Norwegian children with FD.
  • Assessment of hearing thresholds at low, high, and ultra-high frequencies.
  • Comparison of hearing thresholds to normative data (0 dB HL) and analysis of follow-up data.

Main Results:

  • 47 children with FD (113 audiograms) were analyzed; 6.4% had HL at baseline.
  • Three additional children developed HL before age 18, with five cases of sensorineural HL attributed to FD.
  • Children with FD exhibited poorer hearing thresholds across all frequencies, most notably at ultra-high frequencies, with deterioration over 5 years.

Conclusions:

  • While a minority of children with FD present with clinically significant HL, all show poorer hearing thresholds than healthy peers.
  • Hearing sensitivity, particularly at ultra-high frequencies, is compromised in pediatric FD patients and worsens over time.
  • Future clinical trials for FD in children should include ultra-high frequency audiometry to assess the impact of early treatment on hearing outcomes.
Abstract

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