Pediatric cystic fibrosis liver disease

What is cystic fibrosis liver disease?

Cystic fibrosis liver disease is damage to the liver caused by cystic fibrosis (CF), a chronic condition caused by a gene mutation.

In the past 20 years, treatments for CF have improved dramatically and people are living longer than ever. Still, CF can cause serious damage to the liver over time. But CFLD has become more recognized in recent years.

What are the different types of cystic fibrosis liver disease?

CFLD can take many forms. If your child has more severe genetic mutations for cystic fibrosis, they may have an increased risk of developing CFLD, and possibly a more severe form. The age at which your child develops CFLD may also affect how severe it can become.

Mild forms of CFLD

There are two main types of mild CFLD:

• Cholestasis. Some infants with cystic fibrosis develop cholestasis. This is where the CFTR mutation can cause the body to produce thicker bile, which slows the bile flow. This slower flow of bile can cause health problems over time, such as inflammation in the liver (fibrosis). However, cholestasis can improve as your child grows.

• Elevated liver enzymes. Elevated liver enzymes often indicate damage to the liver and can show up long before any symptoms of CFLD emerge. Higher liver enzymes are common in children with CF, and can be caused by medications, infection or malnutrition. However, they can also indicate more severe forms of CFLD. Your doctor can help determine causes of elevated liver enzymes by monitoring the enzymes and doing further testing for other causes of liver disease.

• Fatty liver disease. This is when there is extra fat in the liver. It can sometimes cause inflammation in the liver called hepatitis. Scientists don’t yet know whether fatty liver disease in CF always leads to more severe forms of liver disease, or whether it can be reversed. It can affect children with CF with malnutrition who are underweight, as well as children with CF healthy or excessive weight.

Severe forms of CFLD

In older children and adults, more severe forms of CFLD include:

• Cirrhosis of the liver. Cirrhosis is a permanent, advanced form of liver disease. Children with cirrhosis may not have symptoms in its beginning stages, and treatment depends on its cause. Sometimes there is no treatment to prevent liver disease progression, which is the case in CFLD. Children with cirrhosis, no matter the cause, might need a liver transplant. There are also two types of cirrhosis that children with CFLD can experience:

  • Focal biliary cirrhosis. This type of cirrhosis is found in a small section of the liver, while most of the liver is normal and healthy. Usually, focal biliary cirrhosis does not progress to the liver not functioning.

  • Multilobular cirrhosis. This is where damage to liver is caused by growths that form. This type of liver disease can often progress to the point where the liver does not work well. Sometimes, this leads to internal bleeding, or collection of fluid in the abdomen. Children with complications of multilobular cirrhosis may need a liver transplant.

What are the signs and symptoms of cystic fibrosis liver disease?

• Enlarged liver

• Enlarged spleen

• Abdominal distention

• Difficulty gaining weight

• A yellow tint to skin and eyes (jaundice)

• Gastrointestinal bleeding

• Gallstones or swelling in the gallbladder

How is cystic fibrosis liver disease diagnosed?

Many children don't show signs of CFLD until puberty because symptoms don’t typically appear until the damage to their liver has advanced. That’s why we evaluate the liver health of all children with cystic fibrosis every year. Our proactive approach helps us identify damage to your child’s liver as early as possible, and closely monitor it once it starts. This annual evaluation includes:

• A physical exam. We will check your child for signs of CFLD including examining the size of their liver and spleen, whether there is fluid in their abdomen and where there are changes in your child’s mental status. We may also order imaging to take a closer look at your child’s liver.

• Blood work and laboratory tests. These tests look at liver enzymes to see if there is inflammation in your child’s liver. Liver function tests look at sugar levels, how much protein your child’s liver is making and other factors that help your child’s doctor determine how well their liver is working.

• Fibroscan imaging. This specific type of ultrasound allows us to see how stiff your child’s liver is.

• Liver tissue sample testing (biopsy). We may take a sample of your child’s liver to get a better look at its health. Your child will be sedated for this procedure and can go home the same day. Child Life services are also available to help keep your child calm and relaxed.

What causes cystic fibrosis liver disease?

CFLD is caused by cystic fibrosis (CF), an inherited disorder that causes your child’s mucus and digestive fluids to become sticky and thick. If CF slows the digestive fluids (bile) from leaving your child’s liver, it can cause inflammation and scarring.

CFLD is more common in males, people with a history of bowel obstructions in infancy and those who inherited more severe mutations of the gene that causes cystic fibrosis.

How is cystic fibrosis liver disease treated?

CFLD cannot be cured, but our team can help you and your child manage the condition. Our main goal is to prevent further liver damage and help children live a comfortable, independent and active life. Depending on your child’s needs they might receive:

• Nutritional counseling

• Supplements and fat-soluble vitamins

• Pharmacy consult

• Evaluation for CF related diabetes

• Evaluation of bone disease

• Physical therapy

• A liver transplant

Our team is helping develop effective new treatments for CFLD. We are working with the Cystic Fibrosis Foundation to create care guidelines for the disorder, which could lead to new surgical procedures to help your child’s liver function better.