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

Abstract

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.

Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment

“…Although neonatal screening programs are feasible, they result in the identification of many variants of unknown significance or benign variants. Therefore, many studies were trying to establish the prevalence of FD in populations with organ manifestations typical for FD [ 1 , 3 , 25 , 26 , 27 ]. These included patients (the so-called high-risk population) with end-stage renal disease, early stroke, unexplained left ventricular hypertrophy and/or hypertrophic cardiomyopathy, and sclerosis multiplex.…”