Cystic fibrosis (abdominal manifestations)

Last revised by Dr Yair Glick on 21 Dec 2021

Abdominal manifestations in cystic fibrosis (CF) are common, varied and nearly all organ systems can be affected, and it should be remembered that only 39% of patients with cystic fibrosis have pulmonary symptoms as their sole complaint 1. Not only that, but 7% of cystic fibrosis patients do not present until adulthood. 

This article focuses on abdominal manifestations of cystic fibrosis. For general discussion of cystic fibrosis, and a discussion of its other manifestations, please refer to:

The pancreas is the most commonly involved abdominal organ in cystic fibrosis. Exocrine gland insufficiency affects 85-90% of all cystic fibrosis patients and results from inspissated secretions leading to proximal duct obstruction with subsequent acinar disruption and replacement by fibrous tissue and fat.

Endocrine dysfunction occurs in 30-50% of cystic fibrosis patients:

  • fatty replacement
    • most common manifestation of the pancreas
    • can progress to complete pancreatic lipomatosis
    • mean age is 17 years 6
  • acute pancreatitis: occurs in patients with residual pancreatic exocrine function
  • pancreatic calcifications occur in 7% of patients
  • pancreatic cysts and cystosis: typically microscopic 3 mm diameter
  • pancreatic duct strictures
  • up to 72% of adult cystic fibrosis patients will develop liver disease 6
  • focal biliary cirrhosis (pathognomonic for cystic fibrosis and present in 78%): focal portal fibrosis and cholestasis; thickened hyperechoic periportal tissue on ultrasound (>2 mm thickness)
  • up to 12% progress to multilobular cirrhosis 5, but the development of hepatocellular carcinoma (HCC) is unusual
  • 1-8% progress to portal hypertension
  • hepatic steatosis (23-67% 6; seen in 30% of cystic fibrosis patients at biopsy, 30-50% at imaging and 60% at autopsy 2)
  • pathophysiology is multifactorial
  • gallstones: 12-24% of cystic fibrosis patients
  • sclerosing cholangitis
  • intrahepatic ductal strictures are seen in 100% of patients with cystic fibrosis and liver disease and may correspond histologically to focal biliary fibrosis seen in 78% of patients >24 years old
  • microgallbladder: seen in up to 30% of cystic fibrosis patients at autopsy 3
  • gastro-esophageal reflux and associated complications such as Barrett esophagus: thought to be secondary to chronic cough, hyperinflation, and diaphragmatic depression
  • gastric and duodenal ulcerations: likely related to impaired bicarbonate secretion
  • distal intestinal obstruction syndrome (DIOS)
  • intussusception: typically ileocolic and may result from adherent fecal residue or enlarged lymphoid follicles 4; a chronically distended appendix may be the lead point
  • despite the common distention of the appendix by inspissated secretions, the reported prevalence of acute appendicitis in cystic fibrosis patients is lower than that in the general population
  • colon: often abnormal, with proximal colonic wall thickening, pericolonic fat proliferation, and mesenteric fat infiltration
  • pneumatosis intestinalis: confined to the colon and typically coincides with the development of obstructive lung disease
  • rectal mucosal prolapse: typically in young children in whom a diagnosis of cystic fibrosis has not yet been made or young adults that are noncompliant with treatment
  • gastrointestinal tract malignancies, of which colorectal carcinoma is most common
  • renal stones: symptomatic stones are twice as common in cystic fibrosis patients (~4.5%) compared to the general population (2%) 6
  • nephrotic syndrome from secondary amyloidosis (poor prognostic sign) 6

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Cases and figures

  • Case 1: with cirrhosis and portal hypertension
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  • Case 2: with pancreatic fatty atrophy
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  • Case 3: with DIOS and pancreatic calcification
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  • Case 4: with portal hypertension and cirrhosis
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  • Case 5: hepatic steatosis and distended appendix
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