Clinical Characteristics of Hearing Loss and Vertigo in Patients with Fabry Disease
ZHAI Ziyu
WANG Yixu
WANG Le
ZHANG Yuan
LI Ling
PENG Jilin
YUAN Sijie
YE Fanglei
Abstract：Objective To report clinical characteristics of auditory and vestibular symptoms in 13 patients with Fabry disease.Methods Data from 13 patients with confirmed Fabry disease seen at the First Affiliated Hospital of Zhengzhou University(8 males and 5 females,aged 7~59 years)were retrospectively collected,including GLA gene testing,audiometric examinations,and vestibular function tests.Audiometric examinations included pure-tone audiometry(PTA)and impedance audiometry.Vestibular function examinations comprised caloric tests,electrocochleography(ECochG),cervical vestibular evoked myogenic potentials(cVEMP)and ocular vestibular evoked myogenic potentials(oVEMP).Results Among the 13 patients,8(61.5%)presented with limb pain as the initial symptom,3(23.1%)with proteinuria and lower limb edema,1 patient(7.7%)with hearing loss,and 1 patient(7.7%)with dizziness as the initial symptom.All 13 patients carried mutations of the GLA gene.A total of 6 patients(46.2%)demonstrated hearing loss,with 5(38.5%)showing sensorineural loss and 1(7.7%)showing conductive loss.Seven patients(53.8%)reported tinnitus,and 7(53.8%)experienced dizziness,all showing abnormal caloric testing results.ECochG,oVEMP and cVEMP responses were present in all 13 patients,with 6 cases(46.2%)showing abnormal ECochG and oVEMP results,and 5(38.5%)showing abnormal cVEMP results.Conclusion Patients with Fabry disease often exhibit clinical symptoms related to auditory and vestibular perception,providing substantial medical evidence for the need for involvement of otolaryngologists in the multidisciplinary diagnosis and treatment of this disease.
Keywords：fabry diseaseGLA genehearing lossvertigovestibular function testing
Publication Date：2025-02-27
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 4-7 )