Otological aspects of Fabry disease in patients with normal hearing

We investigated the otological aspects of Fabry disease (FD) in patients with normal hearing. Forty-one patients (21 men, 20 women) with bilaterally normal hearing were recruited, and their otological symptoms and hearing evaluations, which included pure tone audiometry (PTA) and distortion product otoacoustic emission (DPOAE), were investigated. Ten of the 21 male (47.6%) and eight of the 20 female (40.0%) patients had otological symptoms, of which tinnitus was the most frequent. Cardiac dysfunction was more frequently observed in female patients. The average thresholds on PTA were below 25 dB at all frequencies, but DPOAE amplitudes were significantly lower in female patients at some frequencies. Otological symptoms were frequently observed in patients with FD, despite their normal hearing levels on PTA. DPOAE might provide useful information regarding cochlear disturbances related to the disease..