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Cardiac and renal dysfunction is associated with progressive hearing loss in patients with Fabry disease
Maria Köping1, Wafaa Shehata-Dieler1, Mario Cebulla1
1Department of Oto-Rhino-Laryngology, Plastic, Aesthetic and Reconstructive Head and Neck Surgery, Comprehensive Hearing Center, University Hospital Würzburg, Würzburg, Germany.
Insights
High-frequency hearing loss and tinnitus are common in Fabry disease (FD). Renal and cardiac issues worsen hearing problems, impacting quality of life.
Area of Science:
- Otolaryngology
- Genetics
- Nephrology
- Cardiology
Background:
- Fabry disease (FD) is an X-linked disorder causing globotriaosylceramid (Gb3) accumulation.
- FD affects kidneys, heart, and nervous system, with frequent cochlear symptoms like hearing loss and tinnitus.
- Comprehensive data on hearing loss in FD patients is limited.
Purpose of the Study:
- To investigate hearing loss in Fabry disease patients.
- To correlate hearing loss severity with cardiac and renal function in FD patients.
Main Methods:
- A single-center study included 68 FD patients.
- Audiological testing included behavioral, electrophysiological, and electroacoustical assessments.
- High-frequency hearing thresholds were evaluated; renal function by eGFR and cardiac function by NYHA class.
Main Results:
- Sensorineural hearing loss was found in 58.8% of patients, primarily affecting high frequencies.
- Hearing loss was often asymmetric and sudden; tinnitus was reported by 41.2%.
- Worsening renal and cardiac function correlated with increased hearing loss severity (p < 0.05).
Conclusions:
- High-frequency hearing loss is a prevalent issue in Fabry disease.
- While not life-threatening, hearing loss significantly impacts quality of life.
- Extensive hearing assessments, including higher frequencies, are recommended for FD diagnosis and management.
Background:
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 high-frequency hearing loss and tinnitus are frequently found with yet no comprehensive data available in the literature.
Objective:
To examine hearing loss in patients with FD depending on cardiac and renal function.
Material And Methods:
Single-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.
Results:
Sensorineural 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).
Conclusions:
High 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.
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