Smarter Decisions,
Better Care

UpToDate synthesizes the most recent medical information into evidence-based practical recommendations clinicians trust to make the right point-of-care decisions.

  • Rigorous editorial process: Evidence-based treatment recommendations
  • World-Renowned physician authors: over 5,100 physician authors and editors around the globe
  • Innovative technology: integrates into the workflow; access from EMRs

Choose from the list below to learn more about subscriptions for a:


Subscribers log in here


Cystic fibrosis: Overview of gastrointestinal disease

INTRODUCTION

Cystic fibrosis (CF) generally is thought of as a lung disease since much of the associated morbidity and mortality is related to pulmonary complications. A discussion of the pulmonary manifestations of CF is presented separately. (See "Cystic fibrosis: Clinical manifestations of pulmonary disease" and "Cystic fibrosis: Overview of the treatment of lung disease".)

Gastrointestinal complications have become an increasingly important cause of morbidity in patients with CF, in part because of improved life expectancy. This topic review provides an overview of the gastrointestinal manifestations of CF. Pancreatic insufficiency, which is one of the most clinically important gastrointestinal issues, and other nutritional issues are addressed separately. (See "Cystic fibrosis: Assessment and management of pancreatic insufficiency" and "Cystic fibrosis: Nutritional issues".)

The underlying pathophysiology of cystic fibrosis is related to abnormal chloride transport caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) located on chromosome 7. The mutations cause the production of abnormally tenacious mucus and secretions in the lungs, gut, pancreas, and hepatobiliary system. As a result, the lumens of these organs become obstructed leading to the clinical findings associated with this disease process. (See "Cystic fibrosis: Genetics and pathogenesis".)

CATEGORIES OF DISEASE

The gastrointestinal manifestations of CF can be broken down into three categories: intestinal, pancreatic, and hepatobiliary.

Intestinal — Intestinal abnormalities include gastroesophageal reflux disease (GERD), meconium ileus (MI), distal intestinal obstruction syndrome (DIOS), intussusception, small intestine bacterial overgrowth, constipation, and rectal prolapse.

                                

Subscribers log in here

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information or to purchase a personal subscription, click below on the option that best describes you:
Literature review current through: Nov 2014. | This topic last updated: Jan 15, 2014.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2014 UpToDate, Inc.
References
Top
  1. Eggermont E, De Boeck K. Small-intestinal abnormalities in cystic fibrosis patients. Eur J Pediatr 1991; 150:824.
  2. Colombo C, Battezzati PM. Hepatobiliary manifestations of cystic fibrosis. Eur J Gastroenterol Hepatol 1996; 8:748.
  3. Blackman SM, Deering-Brose R, McWilliams R, et al. Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis. Gastroenterology 2006; 131:1030.
  4. Colombo C. Liver disease in cystic fibrosis. Curr Opin Pulm Med 2007; 13:529.
  5. Nousia-Arvanitakis S, Fotoulaki M, Economou H, et al. Long-term prospective study of the effect of ursodeoxycholic acid on cystic fibrosis-related liver disease. J Clin Gastroenterol 2001; 32:324.
  6. Bass S, Connon JJ, Ho CS. Biliary tree in cystic fibrosis. Biliary tract abnormalities in cystic fibrosis demonstrated by endoscopic retrograde cholangiography. Gastroenterology 1983; 84:1592.
  7. Hebra A, Hoffman MA. Gastroesophageal reflux in children. Pediatr Clin North Am 1993; 40:1233.
  8. Malfroot A, Dab I. New insights on gastro-oesophageal reflux in cystic fibrosis by longitudinal follow up. Arch Dis Child 1991; 66:1339.
  9. Milla PJ. Cystic fibrosis: present and future. Digestion 1998; 59:579.
  10. Eggermont E. Gastrointestinal manifestations in cystic fibrosis. Eur J Gastroenterol Hepatol 1996; 8:731.
  11. Scott RB, O'Loughlin EV, Gall DG. Gastroesophageal reflux in patients with cystic fibrosis. J Pediatr 1985; 106:223.
  12. Bendig DW, Seilheimer DK, Wagner ML, et al. Complications of gastroesophageal reflux in patients with cystic fibrosis. J Pediatr 1982; 100:536.
  13. Ledson MJ, Tran J, Walshaw MJ. Prevalence and mechanisms of gastro-oesophageal reflux in adult cystic fibrosis patients. J R Soc Med 1998; 91:7.
  14. Ferry, G, Klish, WJ, Borowitz, D, et al. Consensus Conference: Gastrointestinal Problems in Cystic Fibrosis. In: Clinical Practice Guidelines for Cystic Fibrosis, vol II, Cystic Fibrosis Foundation, Bethesda, MD, 1991.
  15. Canani RB, Cirillo P, Roggero P, et al. Therapy with gastric acidity inhibitors increases the risk of acute gastroenteritis and community-acquired pneumonia in children. Pediatrics 2006; 117:e817.
  16. Laheij RJ, Sturkenboom MC, Hassing RJ, et al. Risk of community-acquired pneumonia and use of gastric acid-suppressive drugs. JAMA 2004; 292:1955.
  17. van der Doef HP, Arets HG, Froeling SP, et al. Gastric acid inhibition for fat malabsorption or gastroesophageal reflux disease in cystic fibrosis: longitudinal effect on bacterial colonization and pulmonary function. J Pediatr 2009; 155:629.
  18. Boesch RP, Acton JD. Outcomes of fundoplication in children with cystic fibrosis. J Pediatr Surg 2007; 42:1341.
  19. Littlewood JM. Cystic fibrosis: gastrointestinal complications. Br Med Bull 1992; 48:847.
  20. Fakhoury K, Durie PR, Levison H, Canny GJ. Meconium ileus in the absence of cystic fibrosis. Arch Dis Child 1992; 67:1204.
  21. Gorter RR, Karimi A, Sleeboom C, et al. Clinical and genetic characteristics of meconium ileus in newborns with and without cystic fibrosis. J Pediatr Gastroenterol Nutr 2010; 50:569.
  22. Noblett HR. Treatment of uncomplicated meconium ileus by Gastrografin enema: a preliminary report. J Pediatr Surg 1969; 4:190.
  23. Rowe CR. An atlas of anatomy and treatment of midclavicular fractures. Clin Orthop Relat Res 1968; 58:29.
  24. Rescorla FJ, Grosfeld JL. Contemporary management of meconium ileus. World J Surg 1993; 17:318.
  25. Del Pin CA, Czyrko C, Ziegler MM, et al. Management and survival of meconium ileus. A 30-year review. Ann Surg 1992; 215:179.
  26. Ein SH, Shandling B, Reilly BJ, Stephens CA. Bowel perforation with nonoperative treatment of meconium ileus. J Pediatr Surg 1987; 22:146.
  27. Kao SC, Franken EA Jr. Nonoperative treatment of simple meconium ileus: a survey of the Society for Pediatric Radiology. Pediatr Radiol 1995; 25:97.
  28. Caniano DA, Beaver BL. Meconium ileus: a fifteen-year experience with forty-two neonates. Surgery 1987; 102:699.
  29. Karimi A, Gorter RR, Sleeboom C, et al. Issues in the management of simple and complex meconium ileus. Pediatr Surg Int 2011; 27:963.
  30. Khoshoo V, Udall JN Jr. Meconium ileus equivalent in children and adults. Am J Gastroenterol 1994; 89:153.
  31. Houwen RH, van der Doef HP, Sermet I, et al. Defining DIOS and constipation in cystic fibrosis with a multicentre study on the incidence, characteristics, and treatment of DIOS. J Pediatr Gastroenterol Nutr 2010; 50:38.
  32. Dray X, Bienvenu T, Desmazes-Dufeu N, et al. Distal intestinal obstruction syndrome in adults with cystic fibrosis. Clin Gastroenterol Hepatol 2004; 2:498.
  33. Lin LY, Wong JU. Images in clinical medicine. Meconium-like ileus in cystic fibrosis. N Engl J Med 2012; 366:2017.
  34. Colombo C, Ellemunter H, Houwen R, et al. Guidelines for the diagnosis and management of distal intestinal obstruction syndrome in cystic fibrosis patients. J Cyst Fibros 2011; 10 Suppl 2:S24.
  35. Parmley RR, Gendler SJ. Cystic fibrosis mice lacking Muc1 have reduced amounts of intestinal mucus. J Clin Invest 1998; 102:1798.
  36. Gyömörey K, Rozmahel R, Bear CE. Amelioration of intestinal disease severity in cystic fibrosis mice is associated with improved chloride secretory capacity. Pediatr Res 2000; 48:731.
  37. Mailleau C, Paul A, Colin M, et al. Glycoconjugate metabolism in a cystic fibrosis knockout mouse model. Mol Genet Metab 2001; 72:122.
  38. McCabe, AJ, Irish, MS, Borowitz, DS, Glick, PL. The surgical aspects of gastrointestinal disease in cystic fibrosis. New Insights into Cystic Fibrosis 1999; 6:1.
  39. O'Halloran SM, Gilbert J, McKendrick OM, et al. Gastrografin in acute meconium ileus equivalent. Arch Dis Child 1986; 61:1128.
  40. Speck K, Charles A. Distal intestinal obstructive syndrome in adults with cystic fibrosis: a surgical perspective. Arch Surg 2008; 143:601.
  41. Holmes M, Murphy V, Taylor M, Denham B. Intussusception in cystic fibrosis. Arch Dis Child 1991; 66:726.
  42. Holsclaw DS, Rocmans C, Shwachman H. Intussusception in patients with cystic fibrosis. Pediatrics 1971; 48:51.
  43. Coughlin JP, Gauderer MW, Stern RC, et al. The spectrum of appendiceal disease in cystic fibrosis. J Pediatr Surg 1990; 25:835.
  44. McCarthy VP, Mischler EH, Hubbard VS, et al. Appendiceal abscess in cystic fibrosis. A diagnostic challenge. Gastroenterology 1984; 86:564.
  45. Fridge JL, Conrad C, Gerson L, et al. Risk factors for small bowel bacterial overgrowth in cystic fibrosis. J Pediatr Gastroenterol Nutr 2007; 44:212.
  46. Lewindon PJ, Robb TA, Moore DJ, et al. Bowel dysfunction in cystic fibrosis: importance of breath testing. J Paediatr Child Health 1998; 34:79.
  47. De Lisle RC. Altered transit and bacterial overgrowth in the cystic fibrosis mouse small intestine. Am J Physiol Gastrointest Liver Physiol 2007; 293:G104.
  48. Schneider AR, Klueber S, Posselt HG, et al. Application of the glucose hydrogen breath test for the detection of bacterial overgrowth in patients with cystic fibrosis--a reliable method? Dig Dis Sci 2009; 54:1730.
  49. Gregory PC. Gastrointestinal pH, motility/transit and permeability in cystic fibrosis. J Pediatr Gastroenterol Nutr 1996; 23:513.
  50. Cystic Fibrosis Foundation Patient Registry: annual data report 2011. http://www.cff.org/UploadedFiles/research/ClinicalResearch/2011-Patient-Registry.pdf (Accessed on December 18, 2012).
  51. KULCZYCKI LL, SHWACHMAN H. Studies in cystic fibrosis of the pancreas; occurrence of rectal prolapse. N Engl J Med 1958; 259:409.
  52. Stern RC, Izant RJ Jr, Boat TF, et al. Treatment and prognosis of rectal prolapse in cystic fibrosis. Gastroenterology 1982; 82:707.
  53. Nousia-Arvanitakis S. Cystic fibrosis and the pancreas: recent scientific advances. J Clin Gastroenterol 1999; 29:138.
  54. De Boeck K, Weren M, Proesmans M, Kerem E. Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype. Pediatrics 2005; 115:e463.
  55. Cohn JA, Friedman KJ, Noone PG, et al. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 1998; 339:653.
  56. Sharer N, Schwarz M, Malone G, et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 1998; 339:645.
  57. Marshall BC, Butler SM, Stoddard M, et al. Epidemiology of cystic fibrosis-related diabetes. J Pediatr 2005; 146:681.
  58. Bismuth E, Laborde K, Taupin P, et al. Glucose tolerance and insulin secretion, morbidity, and death in patients with cystic fibrosis. J Pediatr 2008; 152:540.
  59. Lanng S, Hansen A, Thorsteinsson B, et al. Glucose tolerance in patients with cystic fibrosis: five year prospective study. BMJ 1995; 311:655.
  60. Lanng S. Glucose intolerance in cystic fibrosis patients. Paediatr Respir Rev 2001; 2:253.
  61. Moran A, Dunitz J, Nathan B, et al. Cystic fibrosis-related diabetes: current trends in prevalence, incidence, and mortality. Diabetes Care 2009; 32:1626.
  62. Moran A, Hardin D, Rodman D, et al. Diagnosis, screening and management of cystic fibrosis related diabetes mellitus: a consensus conference report. Diabetes Res Clin Pract 1999; 45:61.
  63. Moran A, Pyzdrowski KL, Weinreb J, et al. Insulin sensitivity in cystic fibrosis. Diabetes 1994; 43:1020.
  64. O'Riordan SM, Robinson PD, Donaghue KC, Moran A. Management of cystic fibrosis-related diabetes in children and adolescents. Pediatr Diabetes 2009; 10 Suppl 12:43.
  65. Moran A, Brunzell C, Cohen RC, et al. Clinical care guidelines for cystic fibrosis-related diabetes: a position statement of the American Diabetes Association and a clinical practice guideline of the Cystic Fibrosis Foundation, endorsed by the Pediatric Endocrine Society. Diabetes Care 2010; 33:2697.
  66. Sokol RJ, Durie PR. Recommendations for management of liver and biliary tract disease in cystic fibrosis. Cystic Fibrosis Foundation Hepatobiliary Disease Consensus Group. J Pediatr Gastroenterol Nutr 1999; 28 Suppl 1:S1.
  67. Williams SG, Westaby D, Tanner MS, Mowat AP. Liver and biliary problems in cystic fibrosis. Br Med Bull 1992; 48:877.
  68. Bartlett JR, Friedman KJ, Ling SC, et al. Genetic modifiers of liver disease in cystic fibrosis. JAMA 2009; 302:1076.
  69. Melzi ML, Kelly DA, Colombo C, et al. Liver transplant in cystic fibrosis: a poll among European centers. A study from the European Liver Transplant Registry. Transpl Int 2006; 19:726.
  70. Davis PB, Drumm M, Konstan MW. Cystic fibrosis. Am J Respir Crit Care Med 1996; 154:1229.
  71. Greenholz SK, Krishnadasan B, Marr C, Cannon R. Biliary obstruction in infants with cystic fibrosis requiring Kasai portoenterostomy. J Pediatr Surg 1997; 32:175.
  72. Lykavieris P, Bernard O, Hadchouel M. Neonatal cholestasis as the presenting feature in cystic fibrosis. Arch Dis Child 1996; 75:67.
  73. Colombo C, Battezzati PM, Podda M, et al. Ursodeoxycholic acid for liver disease associated with cystic fibrosis: a double-blind multicenter trial. The Italian Group for the Study of Ursodeoxycholic Acid in Cystic Fibrosis. Hepatology 1996; 23:1484.
  74. Kappler M, Espach C, Schweiger-Kabesch A, et al. Ursodeoxycholic acid therapy in cystic fibrosis liver disease--a retrospective long-term follow-up case-control study. Aliment Pharmacol Ther 2012; 36:266.
  75. Cheng K, Ashby D, Smyth RL. Ursodeoxycholic acid for cystic fibrosis-related liver disease. Cochrane Database Syst Rev 2012; 10:CD000222.
  76. Siano M, De Gregorio F, Boggia B, et al. Ursodeoxycholic acid treatment in patients with cystic fibrosis at risk for liver disease. Dig Liver Dis 2010; 42:428.
  77. Colombo C, Bertolini E, Assaisso ML, et al. Failure of ursodeoxycholic acid to dissolve radiolucent gallstones in patients with cystic fibrosis. Acta Paediatr 1993; 82:562.
  78. Fridell JA, Bond GJ, Mazariegos GV, et al. Liver transplantation in children with cystic fibrosis: a long-term longitudinal review of a single center's experience. J Pediatr Surg 2003; 38:1152.
  79. Faro A, Shepherd R, Huddleston CB, et al. Lower incidence of bronchiolitis obliterans in pediatric liver-lung transplant recipients with cystic fibrosis. Transplantation 2007; 83:1435.
  80. Yi SG, Burroughs SG, Loebe M, et al. Combined lung and liver transplantation: analysis of a single-center experience. Liver Transpl 2014; 20:46.