Abstract
BackgroundFabry disease (FD) is an X-linked recessive hereditary lysosomal storage disorder which results in the accumulation of globotriaosylceramid (Gb3) in tissues of kidney and heart as well as central and peripheral nervous system.Besides prominent renal and cardiac organ involvement, cochlear symptoms like high-frequency hearing loss and tinnitus are frequently found with yet no comprehensive data available in the literature.ObjectiveTo examine hearing loss in patients with FD depending on cardiac and renal function.Material and methodsSingle-center study with 68 FD patients enrolled between 2012 and 2016 at the Department of Oto-Rhino-Laryngology, Plastic, Aesthetic and Reconstructive Head and Neck Surgery of the University of Würzburg. Every subject underwent an oto-rhino-laryngological examination as well as behavioral, electrophysiological and electroacoustical audiological testing. High-frequency thresholds were evaluated by using a modified PTA6 (0.5, 1, 2, 4, 6, 8) and HF-PTA (6, 8 kHz). Renal function was measured by eGFR, cardiac impairment was graduated by NYHA class.ResultsSensorineural hearing loss was detected in 58.8% of the cohort, which occurred typically in sudden episodes and affected especially high frequencies. Hearing loss is asymmetric, beginning unilaterally and affecting the contralateral ear later. Tinnitus was reported by 41.2%. Renal and cardiac impairment influenced the severity of hearing loss (p < 0.05).ConclusionsHigh frequency hearing loss is a common problem in patients with FD. Although not life-threatening, it can seriously reduce quality of life and should be taken into account in diagnosis and therapy. Optimized extensive hearing assessment including higher frequency thresholds should be used.
Highlights
Fabry disease (FD) is an X-linked lysosomal storage disorder which causes the accumulation of globotriaosylceramid (Gb3) in different tissues due to a deficiency or absence of the lysosomal hydrolase α-galactosidase A [1, 2, 3, 4]
Fabry disease (FD) is an X-linked recessive hereditary lysosomal storage disorder which results in the accumulation of globotriaosylceramid (Gb3) in tissues of kidney and heart as well as central and peripheral nervous system
Renal function was measured by eGFR, cardiac impairment was graduated by New York Heart Association (NYHA) class
Summary
Fabry disease (FD) is an X-linked recessive hereditary lysosomal storage disorder which results in the accumulation of globotriaosylceramid (Gb3) in tissues of kidney and heart as well as central and peripheral nervous system. Besides prominent renal and cardiac organ involvement, cochlear symptoms like highfrequency hearing loss and tinnitus are frequently found with yet no comprehensive data available in the literature. Data Availability Statement: All relevant data are within the paper and its Supporting Information files. JM received travel assistance from Sanofi-Genzyme, Shire and Amicus. PN received travel assistance, speaker’s/advisory board honoraria, and research support from Amicus, Sanofi-Genzyme and Shire.
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