Incontinence in Late-Onset Pompe Disease: An Underdiagnosed Treatable Condition

Remiche, Gauthier; Herbaut, Anne-Geneviève; Ronchi, Dario; Lamperti, Costanza; Magri, Francesca; Moggio, Maurizio; Bresolin, Nereo; Comi, Giacomo P.

doi:10.1159/000338776

Cited by 28 publications

(39 citation statements)

References 51 publications

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“…Remiche et al described five patients, four of which had fecal incontinence and one that had both urinary and fecal incontinence. In their study, they concluded that patients with LOPD had a higher prevalence of incontinence and that there may be improvement with ERT (Remiche et al 2012). Our study findings expand the knowledge of the prevalence of urinary symptoms as our data indicates a high prevalence of symptoms across all ages and stages of disease.…”

Section: Discussionsupporting

confidence: 72%

“…Urinary incontinence has been previously described in other neuromuscular and neurological disorders but has not yet been studied within the LOPD population (van der Walt et al 1987;Kobayashi et al 2010;Fidzianska et al 2011). There are case reports that look at incontinence, mainly fecal incontinence, with relationship to enzyme replacement therapy (ERT) (Remiche et al 2012).…”

Section: Introductionmentioning

confidence: 99%

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Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease

et al. 2014

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Objective: To study the prevalence of lower urinary tract symptoms (LUTS) and incontinence in lateonset Pompe disease (LOPD)Methods: Adult LOPD patients seen at the Duke Pompe Clinic were prospectively recruited and asked to complete validated questionnaires on LUTS and incontinence as part of an IRB-approved study. Patient demographics as well as previous urologic history were reviewed.Results: 35 patients with LOPD were included in the study (17 males and 18 females). The median age was 51.8 (range 18-72 years of age). Of these patients, 27/35 were receiving enzyme replacement therapy (ERT) with median duration of 54 months (range 5-88 months). In the male patients, 9/17 (53%) described their stream as dribbling, weak, or intermittent, and 9/17 (53%) complained of postvoid dribbling. In addition 38% of the men were unable to stop their urination midstream. In the female patients, the most common complaint was urinary incontinence, reported in 14/18 (78%). In addition, 7/18 (39%) complained of post-void dribbling, and 47% were unable to stop their urination midstream. Bowel incontinence was reported in 45% of patients. There was a significant association between urinary symptoms and lower extremity function scores and duration of ERT (p ¼ 0.005 and p ¼ 0.04, respectively)Conclusions: This is the first study in a large cohort of LOPD patients that demonstrates LUTS and incontinence occur at a high rate. This study emphasizes the spectrum of LOPD is beyond isolated gross motor and pulmonary involvement and has a significant effect on the lower urinary tract.

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Section: Discussionsupporting

confidence: 72%

Section: Introductionmentioning

confidence: 99%

Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease

et al. 2014

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“…This finding could provide a pathophysiologic mechanism for small and large intestinal dysmotility and bowel control in this cohort. Bowel dysfunction and urinary incontinence have been reported in adults with LOPD, likely related to decreased anal sphincter pressure and fatty infiltration of pelvic floor musculature (Remiche et al 2012;McNamara et al 2015), along with glycogen accumulation in smooth muscle of the bladder (Hobson-Webb et al 2012), and within neurons of the submucosal (Meissner's) and myenteric (Auerbach's) plexuses of the small and large intestines (Bernstein et al 2010). We have observed urinary and bowel incontinence in several long-term survivors with infantile Pompe disease, an area that would benefit from long-term follow-up studies (Tan et al 2013).…”

Section: Discussionmentioning

confidence: 99%

Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease

2015

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“…In adult patients, observations regarding the nutritional status only included changes of body mass index under ERT (van der Beek et al 2009;Ravaglia et al 2010a;Ravaglia et al 2010b;Kobayashi et al 2010;Papdimas et al 2010;Bernstein et al 2010;Regnery et al 2012;Sch€ uller et al 2012). Recent reports on small cohorts addressed the issue of gastrointestinal symptoms in adults with Pompe disease as well as symptoms such as chronic diarrhoea, bowel urge incontinence, meteorism, gastrointestinal reflux, and obstipation (Bernstein et al 2010;Sacconi et al 2010;Remiche et al 2012). In 20 patients with late-onset Pompe disease, 25% had incontinence definitely attributable to Pompe disease (Remiche et al 2012).…”

Section: Introductionmentioning

confidence: 99%

“…Recent reports on small cohorts addressed the issue of gastrointestinal symptoms in adults with Pompe disease as well as symptoms such as chronic diarrhoea, bowel urge incontinence, meteorism, gastrointestinal reflux, and obstipation (Bernstein et al 2010;Sacconi et al 2010;Remiche et al 2012). In 20 patients with late-onset Pompe disease, 25% had incontinence definitely attributable to Pompe disease (Remiche et al 2012). The application of ERT led to a variable reduction of lysosomal glycogen in the smooth muscles (Bijvoet et al 1999;Winkel et al 2003) and to a reduction of gastrointestinal symptoms including incontinence (Bernstein et al 2010;Sacconi et al 2010;Remiche et al 2012).…”

Section: Introductionmentioning

confidence: 99%

Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey

et al. 2014

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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 AE14.7 (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.

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Incontinence in Late-Onset Pompe Disease: An Underdiagnosed Treatable Condition

Cited by 28 publications

References 51 publications

Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease

Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease

Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease

Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey

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