Cochleovestibular Signs As the First Manifestation of Fabry Disease: A Case Report and Literature Review

Abstract

Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by alpha-galactosidase A deficiency, resulting in globotriaosylceramide accumulation and diverse clinical manifestations. We report a case of a 22-year-old male presenting with cochleovestibular disorders as the initial FD manifestation, alongside a literature review. Diagnostic evaluation revealed reduced alpha-galactosidase A activity, confirming FD. Cochleovestibular involvement, although underexplored, significantly affects FD patients, often presenting with sudden deafness or sensorineural hearing loss. Prompt diagnosis and enzyme replacement therapy are crucial for managing FD. Otolaryngologists play a key role in early detection and intervention. This case underscores the importance of considering FD in cases of hearing loss, tinnitus, or vertigo, emphasizing the need for heightened awareness among healthcare providers.

Keywords: acroparesthesia; angiokeratomas; fabry disease; fabry's disease; hearing loss; tinnitus.

Figure 1. Results of pure tone audiometry show mixed hearing loss in the left ear with an air-bone gap of 15 dB