Objective: Fabry disease is a rare hereditary lysosomal storage disease caused by the deficiency of alpha-galactosidase A (α-GLA). Although sensorineural hearing loss is common in Fabry disease, there are no studies in the literature that have screened a population with sensorineural hearing loss for Fabry disease. In this study, we aimed to screen a group of patients who were diagnosed with sensorineural hearing loss and underwent a hearing test for Fabry disease.
Methods: One hundred sixty eight patients who were aged 18-75 years and diagnosed with idiopathic hearing loss between July 2019 and January 2020 were included. In male patients, α-GLA enzyme activity was analyzed. Patients with low enzyme activity were identified and genetic testing was performed for mutations in the GLA gene. In females, only genetic testing was performed.
Results: Eighty four women and 84 men were included in the study. α-GLA enzyme activity was low in 11 of the 84 male patients (13%). One out of these 11 patients had a gene mutation for Fabry disease. Moreover, four relatives of this index patient were diagnosed with Fabry disease in family screening. GLA gene mutation was also found in one of the 84 female patients. Consequently, two (1.2%) of our 168 patients were diagnosed with Fabry disease by screening with enzyme activity and genetic testing.
Conclusion: Our study showed that screening for Fabry disease in patients with idiopathic sensorineural hearing loss without other specific findings might be a useful strategy for detecting new cases.
Keywords: Fabry disease; alpha-galactosidase; genetic testing; lysosomal storage diseases; sensorineural hearing loss.
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