0000000000434672
AUTHOR
D Hajioff
Hearing loss in Fabry disease: data from the Fabry Outcome Survey
Hearing loss is a common symptom in Fabry disease, but neither its natural course nor its aetiology has been defined precisely. The aim of this study was to provide a detailed epidemiological description of hearing impairment in patients in the Fabry Outcome Survey (FOS), which is the largest available database of Fabry patients. Questionnaires were completed by 566 Fabry patients, of whom 316 reported ear-related symptoms. Pure-tone audiograms from 86 patients, performed before starting enzyme replacement therapy, were analysed and compared with age- and sex-specific normal values (International Organization for Standardization, ISO 7029). When compared to an age-matched population (ISO 70…
302 Hearing Abnormalities in Children with Fabry Disease: Data from FOS - the Fabry Outcome Survey
Background: Fabry disease is an X-linked glycosphingolipid storage disorder due to a deficiency of the enzyme alpha-galactosidase A. Accumulation of substrate results in a progressive and life-threatening multisystemic disease. Early clinical manifestations include pain and gastrointestinal symptoms. Sensorineural hearing loss and vertigo are well-recognized features of the disorder, occurring in approximately 50% of adults with Fabry disease. We have investigated the audiological symptoms of Fabry disease in children using pure-tone and impedance audiometry. Methods: Symptom history was obtained using a standardized questionnaire from FOS − the Fabry Outcome Survey. Hearing was measured us…