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Dizziness in Fabry Disease.

Aslak Broby Johansen1, Ulla Feldt-Rasmussen2,3, Mads Klokker1

  • 1Copenhagen Hearing and Balance Center, Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, 2100 Copenhagen, Denmark.

Biomedicines
|February 26, 2025
PubMed
Summary
This summary is machine-generated.

Dizziness and balance issues are highly prevalent in Fabry disease patients, affecting nearly 80%. Central causes, like abnormal optokinetic tests, and polypharmacy may contribute to these symptoms.

Keywords:
Fabrybalance issuedizzinessdizziness handicap indexoto-neurological examinationpolypharmacyvertigo

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Area of Science:

  • Neurology
  • Genetics
  • Otolaryngology

Background:

  • Fabry disease is a rare X-linked lysosomal storage disorder.
  • Vestibular dysfunction and dizziness are anecdotally reported in Fabry disease.
  • Limited research exists on the prevalence and causes of dizziness in Fabry patients.

Purpose of the Study:

  • To determine the prevalence of dizziness and balance issues in Fabry disease patients.
  • To investigate potential peripheral, central, or other etiological factors.
  • To explore the characteristics of these symptoms within the Fabry population.

Main Methods:

  • A modified Dizziness Handicap Inventory survey was administered to 91 Fabry patients.
  • Eight Fabry patients with self-reported dizziness underwent comprehensive oto-neurological examinations.
  • Investigations included Videonystagmography, Video Head Impulse Test, VEMP, and audiometry.

Main Results:

  • 78.2% of 55 surveyed Fabry patients reported dizziness/balance issues, often as short attacks.
  • All eight examined patients had normal outer/middle ear conditions.
  • Five patients showed abnormalities in optokinetic tests and audiometry.

Conclusions:

  • A high prevalence of dizziness/balance issues exists in Fabry disease.
  • Abnormal optokinetic tests suggest a central nervous system origin for symptoms.
  • Polypharmacy in examined patients is a potential contributing factor to dizziness.