# Dizziness in Fabry Disease

**Authors:** Aslak Broby Johansen, Ulla Feldt-Rasmussen, Mads Klokker

PMC · DOI: 10.3390/biomedicines13020249 · Biomedicines · 2025-01-21

## TL;DR

This study explores how common dizziness and balance issues are in Fabry disease patients and investigates their possible causes.

## Contribution

The study is the first to explore the prevalence and potential causes of dizziness in Fabry disease through a survey and clinical tests.

## Key findings

- 78.2% of surveyed Fabry patients reported dizziness or balance issues.
- Abnormal optokinetic test results suggest a central cause for dizziness in some patients.
- Polypharmacy was present in all examined patients and may contribute to dizziness.

## Abstract

Background/Objectives: Fabry disease is an X-linked lysosomal storage disease. Earlier studies have mentioned dizziness/balance issues and vestibular involvement as a symptom of Fabry disease. Research on the matter remains scarce. This pilot study aims to show the prevalence of dizziness/balance issues and whether it is due to peripheral, central, or other factors. Methods: A Dizziness Handicap Inventory, with added questions, was sent out to 91 Fabry patients to estimate the prevalence of dizziness/balance issues. Additionally, this study reports analyses from eight Fabry patients with self-reported dizziness/balance issues who were offered referrals for in-depth investigations of their condition. All eight underwent a comprehensive oto-neurological examination, Videonystagmography, a Video Head impulse test, vestibular myogenic evoked potential, and audiometry. Results: A total of 55 of the 91 patients with Fabry disease answered the survey. Of these, 78.2% felt symptoms of dizziness/balance issues. The most common form of dizziness/balance issues was short-lasting attacks. All eight ENT-examined patients had normal outer and middle ear conditions. Five of eight Fabry patients had abnormal results in the optokinetic test and audiometry. Conclusions: The survey showed a high prevalence of dizziness/balance issues in Fabry patients. The abnormal optokinetic test suggested a central cause and was the only objective measurement we found that could lead to an explanation for dizziness/balance issues. Polypharmacy was present in all eight examined patients and could also explain the dizziness/balance issues in Fabry patients. There is no other clear pattern regarding the characteristics of dizziness/balance issues in Fabry patients in this exploratory study.

## Linked entities

- **Diseases:** Fabry disease (MONDO:0010526)

## Full-text entities

- **Diseases:** X-linked lysosomal storage disease (MESH:D016464), Dizziness (MESH:D004244), Fabry (MESH:D000795)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

41 references — full list in the complete paper: https://tomesphere.com/paper/PMC11853341/full.md

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Source: https://tomesphere.com/paper/PMC11853341