Since residency, I have understood that patients with cystic fibrosis patients could present with rectal prolapse.  Yet, I can recollect only one instance in which a family told me that rectal prolapse was a presenting feature in the diagnosis of their child.  It turns out that rectal prolapse is a little less common as a presenting feature, at least these days, and that the majority of cases occur in individuals with cystic fibrosis who have already been diagnosed (JPGN 2015; 60: 110-12).

In this retrospective study (2000-2010), there were 262 patients with rectal prolapse identified: 65% were male and mean age was 4 years 8 months.  Newborn screening for cystic fibrosis(1994 in Wisconsin) had preceded the study period.

The most common reason for rectal prolapse was constipation (52.1%), and then acute diarrhea (12%).  Only 3.6% had cystic fibrosis. Two patients were diagnosed with cystic fibrosis based on testing performed due to rectal prolapse; the remaining five had already been diagnosed.

The authors note that among their cystic fibrosis population that 3.5% also had rectal prolapse.

Take-home message: In patients with rectal prolapse, testing for cystic fibrosis has a low yield in the era of newborn screening but is probably still necessary.

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