J Appl Biomed 19:57-61, 2021 | DOI: 10.32725/jab.2021.003

Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss

Richard Holy¹, Tereza Hlozkova², Klara Prochazkova³, David Kalfert^4,*, Frantiska Hybnerova¹, Denisa Ebelova⁵, Berthold Streubel⁶, Martin Chovanec³, Bretislav Gal², Ales Linhart⁵, Jaromir Astl¹

¹ Charles University, Third Faculty of Medicine, Military University Hospital, Department of Otorhinolaryngology and Maxillofacial Surgery, Prague, Czech Republic

² Masaryk University, Medical Faculty, St. Anne's University Hospital, Department of Otorhinolaryngology and Head and Neck Surgery, Brno, Czech Republic

³ Charles University, Third Faculty of Medicine, Faculty Hospital Královské Vinohrady, Department of Otorhinolaryngology, Prague, Czech Republic

⁴ Charles University, First Faculty of Medicine, University Hospital Motol, Department of Otorhinolaryngology and Head and Neck Surgery, Prague, Czech Republic

⁵ Charles University, First Faculty of Medicine, General University Hospital, 2nd Department of Medicine - Department of Cardiovascular Medicine, Prague, Czech Republic

⁶ Medical University of Vienna, Clinical Institute for Pathology, Vienna, Austria

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.

Keywords: Alpha-galactosidase; Fabry disease; Screening; Sensorineural hearing loss; Tinnitus

Grants and funding:

This project was supported by Sanofi providing the diagnostic kits for dried blood spot analysis in the laboratory.

Conflicts of interest:

All the authors declare that they have no conflict of interests.

Received: August 1, 2020; Revised: December 17, 2020; Accepted: January 22, 2021; Prepublished online: January 28, 2021; Published: March 3, 2021  Show citation