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

## TL;DR

A young man with Fabry disease first showed symptoms of hearing and balance issues, highlighting the need for early diagnosis and treatment.

## Contribution

This case report highlights cochleovestibular signs as an underrecognized initial manifestation of Fabry disease.

## Key findings

- Cochleovestibular disorders can be the first sign of Fabry disease in some patients.
- Early diagnosis and enzyme replacement therapy are essential for managing FD.
- Otolaryngologists should consider FD in patients with unexplained hearing or balance problems.

## 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.