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Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss
Richard Holy, Tereza Hlozkova, Klara Prochazkova, David Kalfert, Frantiska Hybnerova, Denisa Ebelova, Berthold Streubel, Martin Chovanec, Bretislav Gal, Ales Linhart, Jaromir Astl
Language English Country Czech Republic
- MeSH
- Fabry Disease * diagnosis complications MeSH
- Humans MeSH
- Multicenter Studies as Topic MeSH
- Mass Screening MeSH
- Hearing Disorders etiology MeSH
- Prevalence MeSH
- Prospective Studies MeSH
- Tinnitus etiology MeSH
- Check Tag
- Humans MeSH
- Male MeSH
Fabry disease (FD) is a lysosomal storage disorder caused by pathogenic mutations in the alpha-galactosidase A (AGALA) encoding gene region. This rare disease affects several organs including the cochlea-vestibular system. Tinnitus and sensorineural hearing loss (SNHL) are reported among otoneurological symptoms. Early and correct diagnosis of FD is important with a view to available therapy. The aim of the study was to screen for alpha-galactosidase deficiency in men with tinnitus/SNHL. A prospective multicentric study including consecutive patients with SNHL confirmed by tone audiometry or tinnitus evaluated (10/2016-8/2019). The diagnosis of AGALA deficiency was done by dry blood spot method using a threshold of 1.2 µmol/l/h. Only men aged 18-60 were included. 181 patients were subject to evaluation. SNHL was reported in 126 (70%) patients, 50 (28%) patients had unilateral, 76 (42%) patients had bilateral SNHL. Tinnitus was found in 161 (89%) patients, unilateral in 96 (53%) and bilateral in 65 (36%) patients. Suspected FD was not detected in any patient; alpha-galactosidase The AGALA values ranged 1.5-8.8 µmol/l/h, an average of 3.4 µmol/l/h. None of the 181 patients participating in the study had AGALA levels below the threshold 1.2 µmol/l/h. The occurrence of tinnitus and sensorineural hearing loss in men appears to be an irrelevant clinical sign for FD systematic screening.
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Literatura
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