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RESEARCH PRODUCT

302 Hearing Abnormalities in Children with Fabry Disease: Data from FOS - the Fabry Outcome Survey

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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 using pure-tone audiometry of both air (250–8000 Hz) and bone (500–4000 Hz) conduction thresholds, with masking as appropriate. Impedance audiometry was performed to exclude effusions. Results: Symptom questionnaires were completed by 46 boys and 52 girls, with a median age of 12 (range, 1–18) and 14 (range, 2–18) years, respectively. A total of 15% of both boys and girls complained of dizziness. Tinnitus was reported in 22% of boys and 35% of girls. Generally, the children with hearing loss were found to have different degrees of impairment in each ear. Air conduction thresholds in the ear with the most significant hearing loss were abnormal (> 20 dB) in 20–40% of boys and 10–25% of girls. Approximately 79% of children with ear-related symptoms also complained of neurological pain and gastrointestinal signs and symptoms. Conclusions: Audiological symptoms, especially tinnitus, and abnormal hearing thresholds are not uncommon in children with Fabry Disease. A large proportion of children with audiological symptoms also suffered from pain and gastrointestinal manifestations. A cluster of acroparaesthesiae, gastrointestinal manifestations and hearing abnormalities are therefore suggestive of Fabry disease.