How is cystic fibrosis-related liver disease diagnosed and monitored?

How is cystic fibrosis-related liver disease diagnosed?

There are no tests that can tell us who will get cystic fibrosis-related liver disease. It is also hard to catch early because there are often no signs or symptoms. This is why regular check-ups are so important.

Children and young people with cystic fibrosis have annual check-ups. This includes tests to look for liver disease. The medical team want to find any problems at an early stage. This will give them more time to slow down the disease and stop any damage to the liver getting worse.

Tests used to check the liver may include:

Physical examination

A doctor will check your child’s body for the following:

• swelling of the liver (hepatomegaly)
• swelling of the spleen (splenomegaly)
• visible veins in the tummy (abdominal) wall
• yellowing of the skin and whites of the eyes (jaundice)

Liver blood tests (also known as liver function tests / LFTs)

To do these tests, a blood sample is taken and tested in a laboratory. They help to see if the liver is injured and how well it is working. The tests are also used to monitor liver disease over time. They can help to see if the liver is getting healthier, getting worse or staying the same.

Abdominal ultrasound scan

An abdominal ultrasound scan uses sound waves to create a picture of the inside of the body. It may be used to check and monitor:

• the size and texture of the liver
• the size of the spleen
• the size of the gallbladder
• blood flow into and out of the liver
• swelling, stones or blockages in the bile ducts

Liver biopsy

A liver biopsy is not commonly used for diagnosing cystic fibrosis-related liver disease. It is only done if there is doubt over the diagnosis or if there may be another cause of the liver disease.

During this test a very thin needle is inserted into the tummy (abdominal) wall and into the liver. The needle takes a small sample of liver tissue. This is sent to a laboratory to be studied under a microscope.

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How is cystic fibrosis-related liver disease monitored over time?

If your child is diagnosed with cystic fibrosis-related liver disease they will have regular liver check-ups. This will help the medical team monitor the liver over time and start treatment if needed.

Test used to monitor the liver may include:

Physical examination and liver blood tests

The medical team will continue to use physical examination and liver blood tests. These tests help monitor the liver over time. They will be used to look for any changes that show the liver disease is getting worse.

Abdominal ultrasound scan

The medical team will continue to use abdominal ultrasound scans. The scans will be done at regular intervals. They will be done sooner if the physical examination or blood test results pick up any changes to the liver.

At this stage ultrasound scans are useful for checking for:

• scarring of the liver (fibrosis)
• development of a complication called portal hypertension

Liver stiffness measurements

The medical team use special scans to monitor the amount of stiffness in the liver. Health liver tissue is soft, so stiffness shows that damage has occurred. The scans are usually only available at the specialist paediatric liver centres.

Endoscopy (also known as oesophago-gastro-duodenoscopy / OGD)

An endoscopy is a test that lets the doctor look inside the body without doing surgery. The medical team may use it if there is a chance your child has a complication called portal hypertension.

An endoscopy is done under general anaesthetic. During the procedure, the doctor passes a flexible tube down the food pipe (oesophagus). It then moves through the stomach and into the first part of the small intestine. The tube has a small light and camera at the end. The doctor uses it to look for swollen blood vessels in the food pipe (oesophageal varices). The swollen blood vessels are caused by portal hypertension. They can be treated during the endoscopy procedure.

Magnetic resonance imaging (MRI) / magnetic resonance cholangiopancreatography (MRCP)

These scans use strong magnets and radio waves to make pictures of the internal organs. They are particularly useful for looking at the biliary tree.

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Next: Symptoms and complications

Special thanks

Information reviewed: July 2024

Next review date: July 2027

We would like to thank staff at each of the specialist paediatric liver centres: Birmingham Children’s Hospital, King’s College Hospital and Leeds Children’s Hospital. We would also like to thank the families who helped us produce this information.

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