gms | German Medical Science

Fabry disease is a lysosomal storage disorder with a deficient activity of a-galactosidase A. The accumulation of glycosphingolipids leads to a damage of the renal epithelial cells, myocardial cells, the neuronal cells of the dorsal root ganglion and the autonomous nervous system as well as the smooth muscular cells of the blood vessels. This leads to a variety of symptoms like acroparaesthesia in the beginning and renal failure, cardiomyopathy and cerebrovasular disease lead to premature death. Until now there are no reliable data about hearing impairment in patients with Fabry disease. The disease is X-linked, therefore most cohort studies concentrated on male patients because it has been thought that Fabry disease affects male patients more severely than female heterocygotes [Ref. 1], [Ref. 2], [Ref. 3], [Ref. 4]. Recently it has been described for several symptoms that heterocygotes females are also affected (Whybra et al., 2001; Galanos et al., 2002; Kampmann et al., 2002). In this study we discuss whether and in which extent patients of both genders are affected by hearing impairment.

We examined 72 patients at the clinic of communication disorders in Mainz, 43 females and 29 males aged 4 - 72 years (mean: 32,8 years). All Patients underwent an ENT-examination, pure-tone audiometry, speech audiometry, tympanometry and acoustic reflex measurements.

Characteristically we found a high frequency hearing loss, with a maximum occurring at 8 kHz with 85 dB in one patient. Overall 22 female and 15 male patients showed a hearing loss. Thirteen of our patients were children aged 4 to 17 years. Only one of these children suffered from a sensorineural hearing loss of 30 dB right and 25 dB left at 4 kHz.

We could show in this study in a greater collective that females as well as males are affected by hearing impairment due to Fabry disease. It seems that the hearing loss in females is less than in males but caused by the high standard deviation the difference are not statistically significant. The different occurrence might be explained with a mosaic inactivation of the affected X-chromosome, whereas normally 50% of the affected X-chromosomes are switched off. There are also asymmetric allocations, so that in the affected females the paternal, affected X-chromosome predominantly is active.