Abstract
BackgroundFabry Disease (FD) is an X-linked hereditary lysosomal storage disorder which leads to a multisystemic intralysosomal accumulation of globotriaosylceramid (Gb3). Besides prominent renal and cardiac organ involvement, patients commonly complain about vestibulocochlear symptoms like high-frequency hearing loss, tinnitus and vertigo. However, comprehensive data especially on vertigo remain scarce. The aim of this study was to examine the prevalence and characteristics of vertigo and hearing loss in patients with FD, depending on renal and cardiac parameters and get hints about the site and the pattern of the lesions.MethodsSingle-center study with 57 FD patients. Every patient underwent an oto-rhino-laryngological examination as well as videonystagmography and vestibular evoked myogenic potentials (VEMPs) and audiological measurements using pure tone audiometry and auditory brainstem response audiometry (ABR). Renal function was measured by eGFR, cardiac impairment was graduated by NYHA class.ResultsMore than one out of three patients (35.1%) complained about hearing loss, 54.4% about vertigo and 28.1% about both symptom. In 74% a sensorineural hearing loss of at least 25 dB was found, ABR could exclude any retrocochlear lesion. Caloric testing showed abnormal values in 71.9%, VEMPs were pathological in 68%. A correlation between the side or the shape of hearing loss and pathological vestibular testing could not be revealed.ConclusionsHearing loss and vertigo show a high prevalence in FD. While hearing loss seems due to a cochlear lesion, peripheral vestibular as well as central nervous pathologies cause vertigo. Thus, both the site of lesion and the pathophysiological patterns seem to differ.
Highlights
Fabry Disease (FD) is an X-linked hereditary lysosomal storage disorder which leads to a multisystemic intralysosomal accumulation of globotriaosylceramid (Gb3)
Fabry disease (FD) is an X-linked lysosomal storage disorder which is characterized by a reduced or absent enzyme activity of α-galactosidase A. This leads to an intralysosomal accumulation of globotriaosylceramid (Gb3), which results in tissue damage of kidneys, heart and the nervous system [1,2,3,4]
Clinical data suggest a beneficial effect of enzyme replacement therapy (ERT) in stabilizing hearing loss and improving vestibular function [16, 17, 23]
Summary
Fabry Disease (FD) is an X-linked hereditary lysosomal storage disorder which leads to a multisystemic intralysosomal accumulation of globotriaosylceramid (Gb3). Despite the profound impact of hearing loss and vertigo on patients’ individually experienced health-related quality of life, comprehensive data supporting the development of new guidelines for the monitoring and treatment of Fabry disease remain scarce due to prognostic domination of other organs. The aim of this current study was to evaluate the prevalence and characterize the patterns of vertigo and hearing loss in dependence of other Fabry-typical organ manifestations and to get hints about the site and the pattern of the lesions
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