Fabry disease presenting with sudden hearing loss and otosclerosis: a case report

Area of Science:

• Genetics and rare diseases
• Otolaryngology
• Neurology

Background:

• Fabry disease is an X-linked lysosomal storage disorder affecting multiple organ systems.
• Patients with Fabry disease often experience a wide range of symptoms, including neurological, dermatological, cardiac, renal, and ocular manifestations.
• Hearing loss is a known, though less common, symptom associated with Fabry disease.

Purpose of the Study:

• To report a case of sudden unilateral hearing loss in a patient with Fabry disease.
• To investigate the potential co-occurrence and connection between Fabry disease and otosclerosis.
• To analyze the efficacy of standard sudden hearing loss treatments in a Fabry disease patient.

Main Methods:

• Case report of a 26-year-old European Caucasian male with Fabry disease.
• Treatment administered included glucocorticoids, pentoxifylline, hyperbaric oxygen, and fluoride for sudden hearing loss and otosclerosis.
• Audiometric evaluation was performed to assess hearing status and evidence of otosclerosis.

Main Results:

• The patient presented with episodic sudden unilateral hearing loss.
• Standard treatments for sudden hearing loss provided partial and transient benefits.
• This case is the first to describe otosclerosis-associated hearing loss in a patient with Fabry disease.

Conclusions:

• Few data exist on treating sudden hearing loss in Fabry disease patients.
• The pathogenesis of otological involvement in Fabry disease and its connection to otosclerosis remains unclear.
• Thorough hearing evaluation and careful therapeutic decision-making are crucial for patients with Fabry disease.