Fabry disease and the ear

Excerpt

Otological symptoms are common in patients with Fabry disease. Although they are not life threatening, they may severely affect quality of life. Data from FOS – the Fabry Outcome Survey – show that most patients experience hearing loss during their lifespan and that this hearing loss exceeds that of the normal population, as seen in ISO 7029 (International Institute of Standardization). The majority suffer from sensorineural hearing loss, with only a minority having mixed or conductive losses. Slowly progressive hearing loss predominates but the frequency of sudden hearing loss is elevated compared with the general population. About 85% of male patients over 50 years of age and 75% of female patients over 60 years of age suffer from hearing loss severe enough to justify the use of hearing aids. Preliminary data suggest that enzyme replacement therapy has a small beneficial effect in patients with mild or moderate hearing loss. Tinnitus is also much more frequent in patients with Fabry disease than in the normal population. About half of the male patients over 50 years of age and half of the female patients over 60 years of age suffer from tinnitus, as recorded in the FOS sign and symptom checklist. The FOS database provides little information on vertigo, however, as, until recently, it has not differentiated true vertigo from other forms of dizziness. Vestibular dysfunction does occur in Fabry disease but appears to be much less frequent than the 'vertigo' documented in the FOS sign and symptom checklist. The prevalence of non-specific dizziness appears to increase with age, with a smaller difference between genders than is the case for hearing loss.