Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Significant hearing loss in Fabry disease: Study of the Danish nationwide cohort prior to treatment

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Dyslipidemia at diagnosis of childhood acute lymphoblastic leukemia

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Newborn body composition after maternal bariatric surgery

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Cytomegalovirus-specific CD8+ T-cell responses are associated with arterial blood pressure in people living with HIV

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Evaluation of Serum Insulin-like Factor 3 Quantification by LC-MS/MS as a Biomarker of Leydig Cell Function

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Incidence of Ischemic Stroke in Individuals With and Without Aortic Valve Stenosis: A Danish Retrospective Cohort Study

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Statin therapy is associated with lower prevalence of gut microbiota dysbiosis

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

BACKGROUND: Fabry disease (FD) is a lysosomal storage disorder resulting in systemic accumulation of globotriaosylceramide resulting in multi-organ dysfunction e.g. cerebral, cardiac, renal and audiologic complications. The audiologic involvement in FD has often been neglected; while not a lethal aspect of the disease, hearing loss can have a significantly negative impact on quality of life.

OBJECTIVES: To investigate baseline hearing status of the Danish Fabry cohort prior to treatment, compared to sex- and age-expected hearing levels and correlating hearing to renal and cerebral findings.

MATERIAL AND METHODS: Retrospective study of baseline hearing status of the Danish Fabry cohort (n = 83, 9-72 years). Air conduction and speech discrimination scores were assessed at 6 frequencies between 0.25-8 kHz bilaterally. Data were collected between 2001-2014 and compiled in STATA using multilinear mixed modelling for statistical evaluation.

RESULTS: Hearing thresholds at all frequencies deviated from the expected thresholds of an otologically normal cohort (p<0.001) and ranged 0.5 to 1.5 standard deviations below expected values. In total 29 males and 54 females were included. Hearing loss was more pronounced in the higher frequencies. There was a trend of association between hearing loss and measured glomerular filtration rate (mGFR) (p = 0.084). No association was present between hearing loss and albuminuria (p = 0.90), Fabry related cerebral abnormalities (p = 0.84) and cardiac left ventricular mass index, (LVMi) (p = 0.67) independent of sex. Hearing thresholds were poorer for men compared to women (p = 0.001). Sex differences were present at 0.25, 4 and 8 kHz.

CONCLUSION: Our findings demonstrated significant hearing loss in Danish FD patients before treatment initiation, being more profound than in otologically healthy individuals at all frequencies. Additionally, we observed no association between hearing loss and LVMi, albuminuria or FD cerebral abnormalities, with a trend of association to mGFR.

SYNOPSIS: Patients with Fabrys disease have hearing loss of all frequencies and most prominently at high frequencies (4-8 kHz), with no association between the hearing loss and cerebral abnormalities, and cardiac mass but with a trend of association to measured glomerular filtration rate.

Original languageEnglish
JournalPLoS One
Volume14
Issue number12
Pages (from-to)e0225071
ISSN1932-6203
DOIs
Publication statusPublished - 2019

ID: 58586522