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

Research output: Contribution to journalJournal articlepeer-review

Documents

  • Fulltext

    Final published version, 1.11 MB, PDF document

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.

Original languageEnglish
Article number100841
JournalMolecular Genetics and Metabolism Reports
Volume31
Number of pages6
ISSN2214-4269
DOIs
Publication statusPublished - 2022

Bibliographical note

Publisher Copyright:
© 2022

    Research areas

  • Albuminuria, Cardiac dysfunction, Chronic kidney disease, Fabry disease, Genetic disorder, Hearing loss, Lysosomal storage disorder, White matter lesions, X-linked disorder

Number of downloads are based on statistics from Google Scholar and www.ku.dk


No data available

ID: 299556922