Characterization of vertigo and hearing loss in patients with Fabry disease
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RESEARCH
Open Access
Characterization of vertigo and hearing loss in patients with Fabry disease Maria Köping1* , Wafaa Shehata-Dieler1, Dieter Schneider1, Mario Cebulla1, Daniel Oder2, Jonas Müntze2, Peter Nordbeck2, Christoph Wanner2, Rudolf Hagen1 and Sebastian P. Schraven3
Abstract Background: Fabry 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. Methods: Single-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. Results: More 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. Conclusions: Hearing 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. Keywords: Fabry disease, Vertigo, VEMP, Cardiomyopathy, Chronic kidney disease, Lysosomal storage disorder
Background 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 [1–4]. The incidence of FD was previously stated at 1:40.000 to 1:117.000 [5, 6], whereas recent studies assumed a much higher occurrence with demographic and ethnical correlation as newborn screenings in Taiwan or Italy suggest [7–9]. Hemizygous * Correspondence: [email protected] 1 Department of Oto-Rhino-Laryngology, Plastic, Aesthetic and Reconstructive Head and Neck Surgery, Comprehensive Hearing Center (CHC) and Fabry Center for Interdisciplinary Therapy (FAZIT), University Hospital Würzburg, Josef-Schneider-Straße 11, Haus B2, D-97080 Würzburg, Germany Full list of author information is available at the end of the
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