[The cochlea in Fabry disease: a sensorineural hearing loss model of vascular origin?].

PURPOSE: Fabry disease is an inborn error of metabolism due to a deficient activity of the lysosomal enzyme alpha-galactosidase A. The enzyme defect leads to the systemic accumulation of neutral glycosphingolipids in tissues, mainly in the vascular endothelium.

STRONG POINT: The aim of this paper is to present a review of the auditory manifestations in Fabry disease, and to discuss hypothesis on the vascular origin of deafness.

PERSPECTIVES: Sensorineural hearing loss in Fabry disease could be the first documented vascular pathology of the inner ear.