Cystic Fibrosis Liver Disease

Cystic fibrosis (CF) is a genetic condition affecting the lungs, liver, intestines, pancreas and reproductive organs. In the lungs, thick mucus has difficulty getting out of the lungs causing chronic lung disease. In the liver, bile is thick and tenacious and also has difficulty getting out of the liver. This may lead to inflammation and scarring of the liver. Advanced liver disease may result in cirrhosis or permanent scarring of the liver. Fortunately, only a small percentage of children with CF develop severe CF-related liver disease or cirrhosis.

Many children with CF liver disease do not show symptoms until late in the course of the disease. Sometimes the liver and spleen will be enlarged on physical exam. With progressive disease, the liver becomes hard and blood cannot flow through the liver well leading to an increase in pressure in the portal vein (the main vein going into the liver). This is called portal hypertension. This can lead to further complications including ascites, or fluid accumulation in the abdomen, or bleeding from enlarged veins in the esophagus or stomach. Sometimes, patients will become jaundiced, which means a yellowing of the skin and eyes.

Diagnosis of Cystic Fibrosis Liver Disease

CF liver disease can be diagnosed with blood tests, findings on physical exam and radiologic tests such as an abdominal ultrasound. Some patients may have a liver biopsy to aid in the diagnosis.

Doctors at Riley at IU Health can perform the following exams and tests to make a diagnosis of CF liver disease:

Physical exam. The doctor can sometimes feel the enlarged liver and spleen during a physical exam.
Blood tests. A group of blood tests may be ran to check the function of the liver.
Ultrasound. An abdominal ultrasound uses sound waves to create images of the inside of the abdomen, including the liver.
Liver biopsy. A liver biopsy may be performed to further evaluate a diagnosis of CF liver disease.

Treatments

There are no treatments to prevent or cure CF liver disease. Your child will need to be closely followed by a pediatric gastroenterologist in addition to his or her pulmonary doctor. There are some medicines such as ursodiol which might help improve bile flow from the liver. If your child develops complications of liver disease, such as fluid in the abdomen, there are other medications to help control this. Ensuring optimal nutrition is important in patients with CF liver disease. If the scarring in the liver leads to liver failure, some children may require a liver transplant.

Key Points to Remember

CF is a genetic condition that can cause chronic disease in the lungs, liver and other organs.
Poor bile flow in the liver can lead to inflammation and scarring of the liver in patients with CF.
Fortunately, only a small percentage of patients with CF will develop severe liver disease or permanent scarring of the liver, called cirrhosis.
Your child’s doctor can diagnose CF liver disease by blood tests, physical exam findings, radiology tests and sometimes a liver biopsy.
There are some medicines to help control complications of severe CF liver disease. If there is progressive disease and liver failure, some children undergo liver transplantation.

Support Services & Resources

Visit the websites below to find support groups and services and learn more about cystic fibrosis liver disease.

Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.

Learn More About Riley Support Services

Cystic Fibrosis Foundation

This website provides information for patients and families living with CF.

The Childhood Liver Disease Research Network

This website connects patients and families with researchers and clinical trial studies related to CF liver disease.