Fabry disease (FD) is an X-linked inherited lysosomal storage disease. It is a multisystem pathology that can include ENT disorders. The aim of the present study was to investigate the cochleovestibular manifestations of FD, in order to show the importance of screening and systematic ENT evaluation.

A single-center retrospective study included 14 male and 23 female FD patients. Hearing impairment was defined as hearing loss greater than the 90^th percentile for at least one frequency. Vestibular impairment was defined by lateral semicircular canal dysfunction. Age, ongoing enzyme replacement therapy (ERT) and organic (renal, cardiac and cerebrovascular) complications were used as severity markers.

Hearing impairment was found in 62.6% of cases, mostly at high frequencies, and was associated with age, ERT, and cardiac and cerebrovascular disorder. It affected 46.7% of asymptomatic adult patients.

Vestibular impairment was found in 56% of cases, associated with age; it affected two-thirds of ERT patients, more than 60% of patients with organic complications, and 50% of asymptomatic adult patients.

More than half of patients had ENT involvement. All FD patients should undergo early ENT screening for diagnostic, prognostic and therapeutic purposes. Systematic complete ENT follow-up with auditory and vestibular evaluation should be performed regularly, even for heterozygous women.