CC BY-NC-ND 4.0 · Laryngorhinootologie 2018; 97(S 02): S207
DOI: 10.1055/s-0038-1640427
Otologie: Otology
Georg Thieme Verlag KG Stuttgart · New York

Vertigo and hearing loss are common in patients with Fabry Disease but seem to have different pathophysiological patterns

M Köping
1  HNO-Uniklinik Würzburg, Würzburg
D Schneider
1  HNO-Uniklinik Würzburg, Würzburg
R Hagen
1  HNO-Uniklinik Würzburg, Würzburg
S Schraven
1  HNO-Uniklinik Würzburg, Würzburg
K Rak
1  HNO-Uniklinik Würzburg, Würzburg
W Shehata-Dieler
1  HNO-Uniklinik Würzburg, Würzburg
› Author Affiliations
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Publication History

Publication Date:
18 April 2018 (online)



Fabry Disease (FD) is an x-linked hereditary lysosomal storage disorder which leads to reduced or absent enzyme activity of α-galactosidase A and to an intralysosomal accumulation of globotriaosylceramid. This results in tissue damage of kidneys, heart and the nervous system. Furthermore, the cochleovestibular system can also be affected with symptoms like hearing loss, tinnitus and vertigo.

The aim of this study was to examine the prevalence of hearing loss and vertigo in patients with FD and get hints about the site and the pattern of the lesions.


57 patients (27 men, 30 women) underwent vestibular testing including videonystagmography and vestibular evoked myogenic potentials (VEMP) as well as audiological measurements using pure tone audiometry and ABR.


35,1% of the patients complained about hearing loss, 54,4% about vertigo and 28,1% about either symptoms. In 64% a sensorineural hearing loss of at least 25db was found, ABR could exclude any retrocochlear lesion. Caloric testing showed abnormal values in 71,9%, VEMP were pathological in 68%. A correlation between the side or the shape of hearing loss and pathological vestibular testing could not be revealed.


Hearing loss and vertigo show a high prevalence in FD. Hearing loss seems due to a cochlear lesion whereas peripheral vestibular as well as central nervous pathologies cause vertigo. The site of lesion and the pathophysiological pattern seem to differ.