How is PFIC diagnosed?
Progressive familial intrahepatic cholestasis (PFIC) is the name given to a group of conditions in which a digestive fluid, called bile, is not released properly from the liver into the gut (gastrointestinal tract).
The information on this page is for:
- Parents of children with PFIC or suspected PFIC.
- Young people with PFIC.
- Family, friends, carers, and healthcare professionals.
On this page:
How is PFIC diagnosed?
PFIC is usually diagnosed in infants and toddlers. It can take time for a PFIC diagnosis to be made because the condition is rare and your child may need different tests.
Tests used to help diagnose PFIC:
Liver blood tests (also known as liver function tests / LFTs)
To do these tests, a blood sample will be taken and tested in a laboratory. They are a common way of seeing 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.
One particularly useful test is gamma GT (GGT). This measures the amount of an enzyme called gamma-glutamyl transferase (GGT) in the blood. The results can help find out which type of PFIC your child has.
Bile acid tests
These are blood and urine tests which measure the level of bile acids in the body. Children with PFIC usually have much higher levels of bile acids than normal.
Genetic tests
These are special blood tests used to find changes (mutations) in a child’s DNA. Blood will be taken from the child and both parents, if possible.
Ultrasound scans
An 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 blood flow into and out of the liver
- the gallbladder, bile ducts and the flow of bile
Bone X-rays
A bone X-ray uses a type of radiation to create a picture of the bones inside the body. It may be used to look for the early stages of bone weakness (rickets). This can be caused by a lack of vitamin D in the body (vitamin D deficiency) due to PFIC.
Liver biopsy
During this test a very thin needle is inserted through 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.
The biopsy results may help with the PFIC diagnosis. They can also help find out if your child is responding to medical treatment.
Magnetic resonance imaging (MRI) / magnetic resonance cholangiopancreatography (MRCP)
These scans use strong magnets and radio waves to make pictures of the internal organs. The results may be used to help with the PFIC diagnosis. They can also help plan treatments and monitor liver disease over time.
Radionuclide (isotope) scan
This type of scan uses a small amount of a radioactive chemical called an isotope to make pictures of parts of the body. A small amount of the isotope will be injected into a vein, and this will travel in the bloodstream to the liver, bile ducts and gallbladder. The isotope is detected and imaged using a special scanner called a gamma camera.
The first year after diagnosis was about finding our “new normal”. We adapted and realised our daughter was still our beautiful baby girl. She taught us so much about what is important in life.
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This content was last reviewed: March 2024
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We would like to thank everyone who helped with creating and reviewing this page. This information has been produced with input from the three specialist paediatric liver centres in the UK. And with parents and families.
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Everyone’s experience of liver disease will be different. Always talk to your specialist medical team for personal advice.
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