Hearing loss in fabry disease: A 16 year follow-up study of the Danish nationwide cohort

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Background: Fabry disease (FD) is a lysosomal storage disorder resulting in systemic accumulation of globotriaosylceramide (Gb3) causing multi-organ dysfunction. The audiologic involvement in FD has been neglected in previous studies; while not a lethal aspect of the disease, hearing loss can have a significantly negative impact on quality of life. Objective: To investigate hearing loss from baseline through 16 years follow-up of the Danish FD cohort and to compare audiometric data to other clinical variables. Methods: Data was collected prospectively and assessed retrospectively during a period of 16 years from 83 patients (age: 9–72 years; sex: 29 males and 54 females). 55 patients underwent treatment. Air conduction thresholds was assessed at six frequencies between 0.25 and 8 kHz bilaterally. Data was analyzed using multilinear models. Results: Mean follow-up period for patients undergoing a FD specific treatment was 7.8 years (0–12.8 years, SD 3.8 years, n = 55). Hearing thresholds for FD patients deviated from healthy individuals at all frequencies for both sexes (p < 0.001). Males had more profound hearing loss than females at high frequencies (4,8 kHz) (p = 0.025). There was no improvement in hearing with treatment (p = 0.343♂, p = 0.256♀). No associations between hearing loss and measured glomerular filtration rate, left ventricular wall thickness or cerebral white matter lesions were found. Lower plasma Gb3 concentration correlated with better hearing (p = 0.046) in males. Conclusion: Our findings demonstrated significant hearing loss in FD patients compared to audiologically healthy individuals at all frequencies, and no change in hearing during treatment. Lower plasma Gb3 concentrations correlated with better hearing in males.

OriginalsprogEngelsk
Artikelnummer100841
TidsskriftMolecular Genetics and Metabolism Reports
Vol/bind31
Antal sider6
ISSN2214-4269
DOI
StatusUdgivet - 2022

Bibliografisk note

Funding Information:
U·F-R. has received Advisory Board honoraria from Amicus Therapeutics, Freeline Therapeutics, Sanofi Genzyme , and Takeda, speaker honoraria from Amicus Therapeutics, Sanofi Genzyme , and Takeda, grant support from Shire and Sanofi Genzyme , and is a member of the European Advisory Board of the Fabry and FollwMe Registries.

Funding Information:
U?F-R. has received Advisory Board honoraria from Amicus Therapeutics, Freeline Therapeutics, Sanofi Genzyme, and Takeda, speaker honoraria from Amicus Therapeutics, Sanofi Genzyme, and Takeda, grant support from Shire and Sanofi Genzyme, and is a member of the European Advisory Board of the Fabry and FollwMe Registries.Ira Hagen Pedersen (Nurse), Anne Marie Jensen (Audiological technical officer), Erik Finn Kj?rb?l (M.Sc. E. E.) and Casper Kok (laboratory technician) are thanked for excellent assistance. Members of the Fabry Team at Rigshospitalet are thanked for continuously supplying data. UFR's research salary was supported by the Kirsten and Freddy Johansen's Fund. The project was financially supported by Sanofi-Genzyme.

Funding Information:
Ira Hagen Pedersen (Nurse), Anne Marie Jensen (Audiological technical officer), Erik Finn Kjærbøl (M.Sc. E. E.) and Casper Kok (laboratory technician) are thanked for excellent assistance. Members of the Fabry Team at Rigshospitalet are thanked for continuously supplying data. UFR's research salary was supported by the Kirsten and Freddy Johansen's Fund. The project was financially supported by Sanofi-Genzyme .

Publisher Copyright:
© 2022

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