Abstract
BackgroundSome patients with Prader-Willi Syndrome (PWS) have symptoms of constipation, but bowel function in PWS has never been systematically evaluated. The aim of the present study was to describe colorectal function in PWS by means of validated techniques.MethodsTwenty-one patients with PWS (14 women, age 17–47 (median = 32)) were evaluated with the Rome III constipation criteria, stool diary, digital rectal examination, rectal diameter assessed from transabdominal ultrasound, and total gastrointestinal transit time (GITT) determined with radio-opaque markers. Results were compared with those of healthy controls.ResultsAmong PWS patients able to provide information for Rome III criteria, 8/20 (40%) fulfilled the criteria for constipation. Most commonly reported symptoms were a feeling of obstructed defecation (8/19, 42%), <3 defecations per week (8/17, 47%), straining during defecation (7/19, 37%) and lumpy or hard stools (6/19, 32%). Rectal diameter did not differ between PWS (median 3.56 centimeters, range 2.24–5.36) and healthy controls (median 3.42 centimeters, range 2.67–4.72) (p = 0.96), but more PWS patients (13/20; 65%) than healthy controls (3/25; 12%) (p < 0.001) had fecal mass in the rectum. Median GITT was 2.0 days (range 0.5–4.4) in PWS versus 1.6 (range 0.7–2.5) in the control group (p = 0.26). However, GITT was >3 days in 5/21 (24%) of PWS and none of the controls (p = 0.047).ConclusionConstipation is very common in PWS. Patients with PWS have an increased prevalence of prolonged GITT and palpable stools in the rectum at digital rectal examination.
Highlights
Some patients with Prader-Willi Syndrome (PWS) have symptoms of constipation, but bowel function in PWS has never been systematically evaluated
We examined the position of anus, presence of perianal feces, reddening, eczema, fissures, haemorrhoids, perianal sensibility, anal sphincter tone, voluntarily contraction/relaxation of the anal sphincter and the amount and consistency of feces in the rectum
Even though the group of PWS patients had a median number of bowel movements per day of 1.6, specific constipation related symptoms were frequent (Table 1)
Summary
Some patients with Prader-Willi Syndrome (PWS) have symptoms of constipation, but bowel function in PWS has never been systematically evaluated. The aim of the present study was to describe colorectal function in PWS by means of validated techniques. Prader-Willi Syndrome (PWS) is a multisystemic genetic disease which was first described in 1956 [1]. The incidence of PWS is 1:15.000–30.000 newborns [2]. The syndrome is characterized by muscular hypotonia, feeding difficulties and failure to thrive in the early childhood [3]. Further characteristics are developmental delay, short stature and hypogonadism [2]. During childhood a certain demeanor characterized by a food-seeking behavior and hyperphagia develops.
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