Cystic Fibrosis

Cystic fibrosis (CF) is an inherited disease characterized by an abnormality in the body's salt, water- and mucus-making cells. It is chronic, progressive, and is usually fatal. In general, children with CF live into their 30s.

Children with CF have an abnormality in the function of a cell protein called the cystic fibrosis transmembrane regulator (CFTR). CFTR controls the flow of water and certain salts in and out of the body's cells. As the movement of salt and water in and out of cells is altered, mucus becomes thickened. The thickened mucus can affect many organs and body systems including:

  • respiratory — sinuses and lungs
  • digestive — pancreas, liver, gallbladder, intestines
  • reproductive — more so in the male, where sperm-carrying ducts become clogged
  • sweat glands

Many children with cystic fibrosis develop liver problems later in life.

Cystic Fibrosis Liver Disease

Cystic fibrosis affects the lungs, pancreas, liver, and other organs. Although the lung and pancreas are primarily affected in many patients with CF, fat in the liver is common and can be serious. In some patients, severe scarring, or cirrhosis, can develop.

In patients with CF, bile produced by the liver cells becomes stickier than normal and begins to block the small bile ducts. This causes damage and scarring to the surrounding liver tissue (called biliary fibrosis). Biliary fibrosis progresses and spreads through the liver, causing it to become hardened and unable to function optimally.

Symptoms of CF Liver Disease

Some patients have no symptoms, but those with advanced liver disease may have symptoms including:

  • enlarged liver and spleen
  • portal hypertension (high blood pressure in the vein leading to the liver)
  • ascites (fluid accumulation in the abdomen)
  • varices (bleeding from dilated veins) in the esophagus or stomach
  • difficulty maintaining adequate weight
  • jaundice
  • bleeding problems 

Treatment for CF Liver Disease

Medications and nutritional changes can help to reduce the health problems associated with CF liver disease. Patients should avoid alcohol use.