Auditory and vestibular findings in Fabry disease: a study of hemizygous males and heterozygous females

Abstract

Aim: This study aimed to evaluate audiological and vestibular involvement in Fabry disease and the early effects of enzyme replacement therapy with human α‐galactosidase A. Methods: Fourteen patients (10 males, 4 females) aged 14–57 years were studied. Each patient underwent a clinical (history of otological and vestibular aspects, otoscopy) and instrumental (pure tone and speech audiometry, impedance, auditory brainstem response and otoacoustic emission recordings, vestibular caloric tests, electronystagmography during acceleratory stimulation, dynamic posturography) evaluation before starting enzyme replacement therapy. Results: Fifty per cent of patients complained of hearing symptoms (hearing loss, tinnitus, ear fullness). Subjective hearing loss was present in six cases and in three cases it was the first reported symptom of Fabry disease. In six of the seven cases the onset and/or progression of hearing symptoms were sudden. Vertigo or dizziness was reported by four patients and in two cases was associated with hearing symptoms. Audiological evaluation showed sensorineural hearing loss in eight patients (5 males, 3 females). Hearing loss was unilateral in six cases and bilateral in the remaining two cases. The hearing loss (HL) ranged from 30 to 80 dB HL (mean, 43 dB HL) and the lesion was always cochlear. Vestibular examination showed abnormalities in four patients (bilateral weak/abolished response in three cases, side prevalence in one case), which were not related to either the audiological results or the history of vertigo/dizziness. Conclusion: Involvement of the inner ear is common in men and women with Fabry disease. We found a high incidence of cochlear hearing loss, which was typically unilateral and showed onset and/or progression by sudden episodes. Vascular or hydropic mechanisms could be hypothesized to explain audiological findings. Vestibular involvement had a lower incidence and showed a different pattern, thus suggesting that several pathophysiological mechanisms could play a role in determining inner ear damage in Fabry disease. Our preliminary results show that enzyme replacement therapy may stabilize hearing function; however, further follow‐up is required.

Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy

“…Hearing loss has often been linked with Fabry disease, but only recent studies have ascertained its high prevalence [9,18,26]. Predominantly, hearing loss in Fabry disease is of sensorineural type [14,15,18,34].…”

Hyperbaric Oxygen Treatment Restores Sudden Hearing Loss in a Patient with Fabry Disease

“…Studies have demonstrated that patients without detectable ␣ -galactosidase A activity had a more pronounced hearing loss compared to patients with residual enzyme activity [10] . In this respect, enzyme replacement therapy with agalsidase-␣ is able to stabilize and possibly improve hearing in Fabry patients, who have not already progressed to severe hearing loss [6,7,11] . In our case, however, consistent enzyme replacement therapy could not prevent sudden hearing loss of the young patient.…”

Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss in Fabry Disease?

“…Progressive sensorineural HL and sudden deafness, occurring unilaterally or bilaterally, are frequently observed in men with the classic form of FD (Germain et al 2002;Conti and Sergi 2003;Hajioff et al 2003a, b;Hegemann et al 2006;Ries et al 2007;Palla et al 2007;Keilmann et al 2009;Sergi et al 2010). Although the otological symptoms and the HL are not life-threatening complications of FD, they may have a profound impact on the patients' quality of life (Mehta 2003).…”

“…Otological symptoms of FD include progressive sensorineural hearing loss (HL), sudden deafness, tinnitus, dizziness and vertigo (Germain et al 2002;Conti and Sergi 2003;Hajioff et al 2003a, b;Hegemann et al 2006;Ries et al 2007;Palla et al 2007;Keilmann et al 2009;Sergi et al 2010). The prevalence of HL and tinnitus associated with FD increases with age, males being usually affected earlier and more severely than females.…”