Cochlear Implantation: A Treatment Option for Severe to Profound Hearing Loss Associated with Fabry Disease

ABSTRACT

Fabry disease (FD) is a rare multisystemic X-linked lysosomal storage disease. The disease affects many systems of the human body. Sensorineural hearing loss, both sudden and progressive, is one of the many clinical manifestations of this disease. There is limited literature published to date discussing hearing- and balance-related symptoms for this patient population. Cochlear implantation has been mentioned in the literature as a possible treatment option but has not been reported in detail. Recently, a patient with Fabry disease was seen at Mayo Clinic in Rochester, Minnesota. He initially presented with complaints of tinnitus. Four months later, he experienced a severe to profound sudden bilateral sensorineural hearing loss and imbalance. He demonstrated 0% word recognition. After receiving sequential bilateral cochlear implants, his word recognition improved significantly. Following management of this patient, a retrospective study of 75 patients seen at Mayo Clinic for FD revealed 56 were either positive for FD or were carriers. Males represented 61% of this population and 39% were females. Two standardized questionnaires were made available to an online Fabry disease support group. Respondents' results were compared with normative data for each questionnaire. The Fabry group described increased difficulty with various communication tasks when compared with the non-Fabry group.

KEYWORDS

Fabry disease - cochlear implants - X-linked disorder - peripheral neuropathy - lysosomal storage disease - enzyme substitution - enzyme replacement therapy

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