The role of endoscopy and biopsy in the management of severe gastrointestinal disease in cystic fibrosis patients

Pediatr Pulmonol. 2013 Dec;48(12):1181-9. doi: 10.1002/ppul.22697. Epub 2013 Jul 4.


There is increasing evidence to suggest the presence of chronic inflammation in the gastrointestinal (GI) tract of cystic fibrosis (CF) patients. Some CF patients continue to have very severe gastrointestinal symptoms despite conventional CF treatment. In our center, these patients are managed in a CF gastroenterology clinic, jointly with a pediatric gastroenterologist. A number have required GI endoscopy and biopsy. The aim of our study was to characterize these patients and determine whether endoscopy and biopsy changed their management. We reviewed all the patients seen in the CF gastroenterology clinic from 2004 to 2009, who had GI endoscopies performed. The GI symptoms these patients were experiencing included abdominal pain, nausea and vomiting, rectal bleeding, failure to thrive, loose stools, and constipation. Twelve patients had GI endoscopies with mucosal biopsies performed. The median [interquartile range (IQR)] age at referral to the CF gastroenterology clinic was 4 years [0.9-8]. Their body mass index (BMI) was 15.2 [13.7-15.5]. Twenty-five percent were homozygous delta F508. Two patients had previously had meconium ileus as neonates requiring surgical intervention. One other patient had needed abdominal surgery for intussusception. Ninty-two percent were pancreatic insufficient, 25% were chronically infected with Pseudomonas aeruginosa and 17% were on regularly 3 monthly intravenous antibiotics. Of the 10 patients who were able to perform spirometry, FEV1 was 101% [67-125] predicted. Nine of the 12 patients had evidence of mucosal inflammation in their biopsies, including duodenitis with eosinophilic infiltrate, chronic non-specific inactive gastritis, enteropathy with partial villous atrophy, and non-specific colitis. Immunosuppressive and anti-inflammatory therapies were commenced in these nine patients, including prednisolone, azathioprine, methotrexate, ketotifen, mesalazine, and sulfasalazine as well as the use of parenteral nutrition and elemental feeds. All the patients clinically responded to therapy. Five of the patients commenced on anti-inflammatory therapy had repeat biopsies 1-5 years following commencement of treatment and all showed histological improvement of the mucosal inflammation. GI endoscopy with mucosal biopsy has a significant role to play in the management of CF children with severe GI disease. In our study, it influenced the management in the majority of patients with severe GI symptoms. Furthermore, if GI mucosal inflammation is identified on biopsy, management with immunomodulatory agents may be clinically beneficial.

Keywords: biopsy; cystic fibrosis; endoscopy; gastrointestinal inflammation.

MeSH terms

  • Abdominal Pain / etiology
  • Biopsy
  • Child
  • Child, Preschool
  • Cohort Studies
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / pathology*
  • Disease Management
  • Endoscopy, Gastrointestinal / methods*
  • Failure to Thrive / etiology
  • Female
  • Gastrointestinal Diseases / etiology
  • Gastrointestinal Diseases / pathology*
  • Gastrointestinal Hemorrhage / etiology
  • Gastrointestinal Hemorrhage / pathology
  • Humans
  • Infant
  • Male
  • Retrospective Studies
  • Severity of Illness Index
  • Weight Loss