Cystic fibrosis (abdominal manifestations)

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 . 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:

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

Pancreatic manifestations

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
• 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

Hepatobiliary manifestations

Liver parenchymal disease

• up to 72% of adult cystic fibrosis patients will develop liver disease
• 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 , but the development of hepatocellular carcinoma (HCC) is unusual
• 1-8% progress to portal hypertension
• hepatic steatosis (23-67% ; seen in 30% of cystic fibrosis patients at biopsy, 30-50% at imaging and 60% at autopsy)
• pathophysiology is multifactorial

Biliary tree

• 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

Gastrointestinal manifestations

• 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 ; 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 manifestations

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

Siehe auch:

• Pneumatosis intestinalis
• Leberzirrhose
• Nierensteine
• Kolorektales Karzinom
• portale Hypertension
• Invagination
• Pankreaslipomatose
• zystische Fibrose
• Akute Pankreatitis
• Pankreaslipomatose bei Zystischer Fibrose
• sclerosing cholangitis
• distal intestinal obstruction syndrome (DIOS)
• pulmonale Manifestationen der Mukoviszidose
• small bowel involvement with cystic fibrosis
• gastroösophageale Refluxerkrankheit
• fatty replacement

und weiter:

• Pankreasbeteilgung bei Mukoviszidose