Cystic fibrosis (abdominal manifestations)

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

For a general discussion of cystic fibrosis, and a discussion of its other manifestations, please refer to:

• cystic fibrosis (parent article)
  • pulmonary manifestations of CF
  • head and neck manifestations of CF
  • musculoskeletal manifestations of CF

Hepatobiliary manifestations

Liver parenchymal disease

• 40% of CF patients will develop liver disease
• 1-8% progress to portal hypertension
• up to 40% progress to focal biliary cirrhosis  (which is pathognomonic for CF) and up is characterized by thickened periportal tissue measuring > 2mm on US), up to 12% progress to multilobular cirrhosis ⁵, but development of HCC is unusual
• pathophysiology is multifactorial
• fatty infiltration seen in 30% of CF patients at biopsy, 30-50% at imaging and 60% at autopsy ²

Biliary tree

• gallstones: 12-24% of CF patients
• sclerosing cholangitis
• intrahepatic ductal strictures seen in 100% of patients with CF and liver disease and may correspond histologically to focal biliary fibrosis seen in 78% of CF patients >24 years old
• microgallbladder: seen in up to 30% of CF patients at autopsy ³

Pancreatic manifestations

Exocrine gland insuffciency affects 85-90% of all CF 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 CF 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 3mm diameter
• pancreatic duct strictures

Gastrointestinal manifestations

• gastro-oesophageal reflux and associated complications such as Barrett oesophagus: 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 CF patients is lower than that in the general population
• colon: often abnormal in patients with CF, 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 CF diagnosis not yet made or young adults that are non compliant with treatment
• gastrointestinal tract malignancies: of which colorectal carcinoma is most common

Renal manifestations

• renal stones: symptomatic stones are twice as common in CF patients (~4.5%) compared to the general population (2%) ⁶
• nephrotic syndrome from secondary amyloidosis (poor prognostic sign) ⁶