Abstract
Objective: To determine the frequency and impact of gastrointestinal symptoms, and bowel and urinary incontinence, as this is currently unknown in adults with Pompe disease.
Methods: Adult German Pompe patients and age- and gender-matched controls were asked about symptoms in the upper and lower intestinal tract as well as urinary incontinence using the Gastrointestinal Symptoms Questionnaire and the International Consultation on Incontinence Questionnaires for Bowel Symptoms and Urinary Incontinence.
Results: The overall response rate was 78%; 57 patients and 57 controls participated. The mean age of the patients was 48.3 years ±14.7 (28 female, 29 male). 84% of patients were receiving enzyme replacement therapy. Stool urgency, diarrhoea, and urinary urge incontinence were reported significantly more frequently in patients compared to the age- and gender-matched controls (55%, 56%, 33% vs. 20%, 18%, 7%). 20% of Pompe patients used loperamide daily against diarrhoea. No other gastrointestinal tract-related symptoms were reported to occur more frequently in Pompe patients than in controls.
Conclusions: Compared to age- and gender-matched controls, both urinary and bowel incontinence occur in a higher frequency in adults with Pompe disease and have a major impact on daily life.
Competing interests: None declared
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We thank Kathryn Birch for copy-editing and all patients who participated in the study.
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Communicated by: Daniela Karall
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Synopsis
In adults with Pompe disease, urinary and bowel incontinence are frequent symptoms and are often socially disabling.
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Nesrin Karabul, Cornelia Kornblum, Rudolf A. Kley, Eugen Mengel, Matthias Vorgerd, Marcus Deschauer, Benedikt Schoser, and Frank Hanisch have received lecturer honoraria and travel fees from Genzyme, a Sanofi company. Frank Hanisch has also received lecturer honoraria and travel fees from Astellas and Biomarin Incorp.
Anika Skudlarek, Janine Berndt, Stephan Wenninger, Nikolaus Tiling, and Ursula Plöckinger declare that they have no conflict of interest.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Written informed consent was obtained from all patients included in the study.
Statement About the Contribution of Every Co-author
Nesrin Karabul – principal investigator, participated in the design of the study, recruited patients, contributed to data analysis, major participation in drafting the manuscript
Anika Skudlarek – major participation in collection and analysis of data, participation in drafting the manuscript
Janine Berndt – participation in statistical analysis
Cornelia Kornblum – recruited patients, participation in drafting the manuscript
Rudolf A. Kley – recruited patients, participation in drafting the manuscript
Stephan Wenninger – recruited patients
Nikolaus Tiling – recruited patients, participation in drafting the manuscript
Eugen Mengel – participation in drafting the manuscript
Ursula Plöckinger – participation in drafting the manuscript
Matthias Vorgerd – participation in drafting the manuscript
Marcus Deschauer – participation in drafting the manuscript
Benedikt Schoser – participation in drafting the manuscript
Frank Hanisch – principal investigator, designed the study, recruited patients, performed statistical analysis, major participation in drafting the manuscript
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Karabul, N. et al. (2014). Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports, Volume 17. JIMD Reports, vol 17. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_334
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DOI: https://doi.org/10.1007/8904_2014_334
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