Fabry Disease Presenting With Sudden Hearing Loss
Fabry Disease Presenting With Sudden Hearing Loss
Introduction Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys, and eyes.
Case presentation We describe the case of a 26-year-old European Caucasian man who had Fabry disease and who presented with episodic sudden unilateral hearing loss and was treated with glucocorticoids, pentoxifylline, hyperbaric oxygen, and fluoride because of concomitant audiometric evidence of otosclerosis. This case demonstrates the partial and transient beneficial effect of standard treatment for sudden hearing loss not related to Fabry disease and analyzes the possible connection between typical Fabry disease inner-ear lesions and otosclerosis. Whereas hearing loss has been described in connection with Fabry disease, otosclerosis-associated hearing loss in Fabry disease has not yet been described.
Conclusions Although progressive hearing loss in patients with Fabry disease seems to be influenced by replacement therapy, few data concerning treatment of sudden hearing loss are available. The lack of literature concerning the pathogenesis of the otological involvement in Fabry disease makes it impossible to identify a connection between the latter and otosclerosis. Therefore, this report may help to reinforce the importance of a thorough evaluation of hearing in patients with Fabry disease and may be of help with therapeutic decision-making.
Fabry disease (FD) is an X-linked lysosomal storage disorder that is due to the deficient activity of the enzyme alpha-galactosidase A (GLA enzyme), a lysosomal hydrolase encoded by the alpha-galactosidase gene (GLA gene; EC 3.2.1.22). This enzyme deficiency leads to widespread deposition of neutral glycosphingolipids (mainly globotriaosylceramide and, to a lesser extent, galabiosylceramide) on blood vessel walls throughout the body, resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms that predominantly affect the central and peripheral nervous systems, skin, heart, kidneys, and eyes. Acroparesthesias and pain crises, hypohydrosis, angiokeratomas, and corneal dystrophy are among the typical initial manifestations, whereas cardiomyopathy, renal failure, and cerebrovascular events dominate in patients with FD. The otorhinolaryngological area is not spared by this disease, and the majority of patients develop progressive and accelerated sensorineural hearing loss (SNHL) during adulthood. Also, a high incidence of vestibular disorders with dizziness and chronic instability is observed in these patients.
Otosclerosis (incidence of 0.3% to 0.4% in Caucasians) is a bone remodeling disorder of the human otic capsule; however, the etiopathogenesis remains unclear. Genetic predisposition, disturbed bone metabolism, persistent measles virus infection, autoimmunity, and hormonal and environmental factors may play contributing roles in the pathogenesis of otosclerosis. Clinical signs are progressive conductive hearing loss or SNHL (or both) as a consequence of stapes footplate fixation and cochlear bone resorption with endosteal involvement. Instrumental examinations (audiometry, impedensitometry, and computed tomography) aid in identifying affected patients, but a definitive diagnosis can be obtained only through surgical inspection of the middle ear, confirming fixation of the stapes.
We describe the case of a 26-year-old Caucasian man who had FD and who presented after two episodes of unilateral sudden hearing loss (SHL) and who was treated with glucocorticoids, pentoxifylline, and hyperbaric oxygen without complete recovery of right ear function. The case was associated with the audiometric characteristics of otosclerosis.
Abstract and Introduction
Abstract
Introduction Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys, and eyes.
Case presentation We describe the case of a 26-year-old European Caucasian man who had Fabry disease and who presented with episodic sudden unilateral hearing loss and was treated with glucocorticoids, pentoxifylline, hyperbaric oxygen, and fluoride because of concomitant audiometric evidence of otosclerosis. This case demonstrates the partial and transient beneficial effect of standard treatment for sudden hearing loss not related to Fabry disease and analyzes the possible connection between typical Fabry disease inner-ear lesions and otosclerosis. Whereas hearing loss has been described in connection with Fabry disease, otosclerosis-associated hearing loss in Fabry disease has not yet been described.
Conclusions Although progressive hearing loss in patients with Fabry disease seems to be influenced by replacement therapy, few data concerning treatment of sudden hearing loss are available. The lack of literature concerning the pathogenesis of the otological involvement in Fabry disease makes it impossible to identify a connection between the latter and otosclerosis. Therefore, this report may help to reinforce the importance of a thorough evaluation of hearing in patients with Fabry disease and may be of help with therapeutic decision-making.
Introduction
Fabry disease (FD) is an X-linked lysosomal storage disorder that is due to the deficient activity of the enzyme alpha-galactosidase A (GLA enzyme), a lysosomal hydrolase encoded by the alpha-galactosidase gene (GLA gene; EC 3.2.1.22). This enzyme deficiency leads to widespread deposition of neutral glycosphingolipids (mainly globotriaosylceramide and, to a lesser extent, galabiosylceramide) on blood vessel walls throughout the body, resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms that predominantly affect the central and peripheral nervous systems, skin, heart, kidneys, and eyes. Acroparesthesias and pain crises, hypohydrosis, angiokeratomas, and corneal dystrophy are among the typical initial manifestations, whereas cardiomyopathy, renal failure, and cerebrovascular events dominate in patients with FD. The otorhinolaryngological area is not spared by this disease, and the majority of patients develop progressive and accelerated sensorineural hearing loss (SNHL) during adulthood. Also, a high incidence of vestibular disorders with dizziness and chronic instability is observed in these patients.
Otosclerosis (incidence of 0.3% to 0.4% in Caucasians) is a bone remodeling disorder of the human otic capsule; however, the etiopathogenesis remains unclear. Genetic predisposition, disturbed bone metabolism, persistent measles virus infection, autoimmunity, and hormonal and environmental factors may play contributing roles in the pathogenesis of otosclerosis. Clinical signs are progressive conductive hearing loss or SNHL (or both) as a consequence of stapes footplate fixation and cochlear bone resorption with endosteal involvement. Instrumental examinations (audiometry, impedensitometry, and computed tomography) aid in identifying affected patients, but a definitive diagnosis can be obtained only through surgical inspection of the middle ear, confirming fixation of the stapes.
We describe the case of a 26-year-old Caucasian man who had FD and who presented after two episodes of unilateral sudden hearing loss (SHL) and who was treated with glucocorticoids, pentoxifylline, and hyperbaric oxygen without complete recovery of right ear function. The case was associated with the audiometric characteristics of otosclerosis.
