Reflex Decay Test Can Reveal Ear Involvement in Fabry Disease

Area of Science:

• Otolaryngology
• Genetics
• Audiology

Background:

• Fabry disease (FD) is an X-linked lysosomal storage disorder.
• FD can lead to multisystemic complications, including auditory dysfunction.

Purpose of the Study:

• To investigate auditory issues in Fabry disease patients.
• To utilize a comprehensive audiological test battery to assess hearing in FD.

Main Methods:

• A cross-sectional study involving 40 FD patients, 45 healthy controls, and 26 diabetic controls.
• Audiologic evaluations included pure-tone audiometry, speech audiometry, otoacoustic emissions (TEOAEs and DPOAEs), and acoustic reflex testing.

Main Results:

• Hearing loss at higher frequencies (≥4 kHz) was observed in both FD and diabetic groups.
• Fabry disease patients showed a significantly higher incidence of acoustic reflex decay compared to diabetic and healthy controls.
• Distortion product otoacoustic emissions (DPOAEs) were similar between FD patients and healthy controls.

Conclusions:

• Increased acoustic reflex decay in FD patients indicates potential retrocochlear involvement.
• Further audiological assessments, such as auditory brainstem response (ABR) and speech-in-noise tests, are warranted for FD patients.