Hypakuze u pacientů s Fabryho chorobou

Abstract

Introduction: Fabry disease (FD) is a rare hereditary lysosomal storage disease aff ecting diff erent organs, including the cochlea-vestibular system. It can lead to premature hearing loss and tinnitus. Early and correct dia gnosis of FD is important with a view of available therapy. Purpose: The aim of this study is to evaluate the degree of hearing loss in patients with FD. Additionally, to compare diff erences between male and female patients as well as the diff erences of types of FD in patients with diff erent phenotypes. Methods: This is a retrospective study of patients that had been examined in our out-patient offi ce in the years 2016–2020. We used 7-tone pure-tone audiometry (0,125–8 kHz). We compared audiograms of patients right and left ear, calculated average Fowler percentage of hearing loss on left ear, right ear and combined. We compared combined Fowler percentage of hearing loss in diff erent types of FD based on the disease phenotype. Moreover, we compared the progress of hearing loss in time in patients that were examined in our offi ce more than once. Results: We examined 121 patients (55 male, 66 female) with dia gnosed FD. Female patients exhibited 48.5% hearing loss in the right ear and 50% in the left ear. Mixed hearing loss occurred in 1.5% of females in the group. We observed sensorineural hearing loss in 63.6% in the right ear and 65.5% in the left ear within male patients. Mixed hearing loss appeared in 1.8% of male patients. Combined mean Fowler percentage of hearing loss in females was 8.8 % and in males 14.8 %. Female patients with the classic type of FD had signifi cantly worse hearing than females with any other type of FD. This was not observed in the male group. Conclusion: Patients with FD in our group of patients had mostly sensorineural hearing loss. Hearing loss of male patients with FD was signifi cantly worse than females. Keywords: hearing loss – Fabry disease – phenotype – alpha-galactosidase – audiometry