Abstract
Background: X-linked adrenoleukodystrophy (X-ALD) is a disorder caused by mutations in the ABCD1 gene. The commonest phenotype of X-ALD is adrenomyeloneuropathy (AMN), which is characterised by involvement of the spinal cord and peripheral nerves. The aim of this study was to evaluate bladder and bowel symptoms in men with AMN and female X-ALD carriers.
Methods: In this cross-sectional study, patients with confirmed mutation of the ABCD1 gene attending a tertiary care service were approached about bladder and bowel complaints and completed the Urinary Symptom Profile (USP), Qualiveen Short Form (SF-Qualiveen), International Prostate Symptom Score (IPSS) and Neurogenic Bowel Dysfunction (NBD) questionnaires. Neurological disability was assessed using the Expanded Disability Status Scale (EDSS).
Results: Forty-eight patients participated, 19 males (mean EDSS score (n = 16) 5.0 (95% CI ± 1.03)) and 29 females (mean EDSS score (n = 25) 3.2 (95% CI ± 0.98)). Overactive bladder (OAB) symptoms were reported in both males (100%, n = 19) and females (86.2%, n = 25). There was no significant gender difference in severity of OAB symptoms (P = 0.35) and impact on quality of life (P = 0.13). Furthermore, there was no significant difference in OAB severity when symptoms were compared between female carriers and a cohort of women (n = 17) with spinal cord damage due to multiple sclerosis (P = 0.27). Twenty-one percent (n = 4) of males and 10% (n = 3) of females had moderate to severe bowel dysfunction.
Conclusions: Bladder and bowel complaints are common in both men with AMN and female carriers. They have a significant impact on the quality of life yet are under-reported and under-treated. Though having an X-linked pattern of inheritance, female carriers may experience overactive bladder symptoms which are as severe as in male patients and are likely to be neurological in origin.
Competing interests: None declared
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Acknowledgements
This project received a proportion of funding from the NIHR Biomedical Research Centre. Matthew D. Smith received a research bursary from the Wellcome Trust. K I Tudor is a recipient of the EFNS grant named “Department–Department Co-operation Programme”.
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Communicated by: Carla E. Hollak, M.D.
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Take-Home Message (Synopsis)
Bladder and bowel dysfunction is common in both men and women with mutation of the ABCD1 gene for X-linked adrenoleukodystrophy, notably in female carriers, and has a significant impact on the quality of life yet are under-reported and under-treated.
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Johann Hofereiter, Matthew D. Smith, Jai Seth, Katarina Ivana Tudor, Zoe Fox, Anton Emmanuel, Elaine Murphy, Robin H. Lachmann and Jalesh Panicker declare that they have no conflict of interest.
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This was an evaluation of current care provided by a clinical service and, according to the guidance from the National Research Ethics Service of the United Kingdom, would fall under the remit of a service evaluation, which does not require ethics review.
Details of the Contributions of Individual Authors
Johann Hofereiter (first author) was involved in the conception and design of the study, collecting data, analysis and drafting and revising the manuscript.
Matthew D. Smith was involved in collecting data, analysis and drafting and revising the manuscript.
Jai Seth was involved in the design of the study, collecting data and revising the manuscript.
Zoe Fox was involved in data analysis and revising the manuscript.
Anton Emmanuel was involved in the design of the study and revising the manuscript.
Elaine Murphy was involved in the design of the study and revising the manuscript.
Robin H. Lachmann was involved in the design of the study and revising the manuscript.
Jalesh Panicker was involved in the conception and design of the study, monitoring data collection and revising the manuscript. He is the guarantor.
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Hofereiter, J. et al. (2015). Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy. In: Zschocke, J., Baumgartner, M., Morava, E., Patterson, M., Rahman, S., Peters, V. (eds) JIMD Reports, Volume 22. JIMD Reports, vol 22. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_414
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DOI: https://doi.org/10.1007/8904_2015_414
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