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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
Summary
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.
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