Eur Arch Otorhinolaryngol (2007) 264:209 DOI 10.1007/s00405-006-0213-9
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LETTER TO THE EDITOR
Fabry disease and hearing lossComment on: Barras FM, Maire R (2006) Progressive hearing loss in Fabry’s disease: a case report. Eur Arch Otorhinolaryngol 263:688–691
Bruno Sergi · Guido Conti
Received: 9 October 2006 / Accepted: 6 November 2006 / Published online: 24 November 2006© Springer-Verlag 2006
We read with interest the paper by Barras and Maire:the authors reported a case of a patient aVected byFabry disease suVering also for bilateral hearing lossmore pronounced on the left side. During the follow-upthe patient presented a sudden episode of hearing losson the right ear. The authors also performed a vestibu-lar examination, which showed a bilateral complete are-Xexy at the bi-thermal caloric test. The authors alsospeculated on the possible causes of hearing involve-ment and the episodes of sudden hearing loss.
In 2003 we published a series of 14 patients aVectedby Fabry disease [1]. Each patient underwent a com-plete clinical (history of otological and vestibularaspects, otoscopy) and instrumental evaluation; weperformed pure tone and speech audiometry, imped-ance, auditory brainstem response and oto-acousticemission recordings, electronystagmography duringvestibular caloric tests and acceleratory stimulation.Fifty per cent of patients presented hearing loss and insix of them the onset and/or progression of hearingsymptoms were sudden. The brain stem recordingsshowed that the site of lesion was always cochlear. Allour patients were treated with the enzyme replacementtherapy and during these years they did not show sig-niWcant changes in their symptoms and signs of innerear involvement. In only two patients we observed a
sudden decrease of the hearing threshold, and it wasrelated to a general worsening of manifestation of thedisease. In general we can postulate that the enzymereplace therapy stabilize the hearing function in thesepatients, as observed in other largest series [2].
The cause of the hearing loss in Fabry patients is stillnot well known; the Wndings of Schachern et al. [3]showed a seropurulent eVusion and an hyperplasticmucosa in the middle ear, but also strial and spiral liga-ment atrophy, outer hair cell loss and decreased num-bers of spiral ganglion cells leading to think to aninvolvement of both middle and inner ear in the patho-genesis of the hearing loss. The increased incidence ofsudden hearing loss could be related to recurrent micro-vascular infarcts due to the occlusion of the small vesselfor the thickening of the endothelial and smooth musclecells. Indeed we reckon, as supposed by Malinvaudet al. [4], that the globotriaosilceramide (Gb3) accumu-lation in the cells of the vascular endothelium is thecommon cause for the repeated episodes of cerebralischemic attack, renal failure and sudden hearing loss.
References
1. Conti G, Sergi B (2003) Auditory and vestibular Wndings in Fa-bry disease: a study of hemizygous males and heterozygous fe-males. Acta Paediatr Suppl 92:33–37
2. HajioV D, Hegemannn S, Conti G, Beck M, Sunder-PlassmannG, Widmer U, Mehta A, Keilmann A (2006) Agalsidase alphaand hearing in Fabry disease: data from the Fabry OutcomeSurvey. Eur J Clin Invest 36:663–667
3. Schachern PA, Shea DA, Paparella MM, Yoon TH (1989)Otologic histopathology of Fabry’s disease. Ann Otol RhinolLaryngol 98:359–363
4. Malinvaud D, Avan P, Germain DP, Benistan K, BonWls P(2006) The cochlea in Fabry disease: a sensorineural hearingloss model of vascular origin? Rev Med Interne 27:527–531
B. Sergi · G. ContiENT Clinic Catholic University of Sacred Heart of Rome, Rome, Italy
B. Sergi (&)Clinica ORL, Policlinico A. Gemelli, Largo A. Gemelli, 8, 00168 Rome, Italye-mail: [email protected]
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