How is PFIC treated?
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.
There is no cure for PFIC. However, dietary support and medicines can help reduce the symptoms and complications. Surgery may also be an option in a small number of cases.
The medical team will recommend treatments. These may differ from child to child depending on the severity of the symptoms.
On this page:
Dietary support
Children who have liver disease are likely to need extra calories and nutrition. Eating and drinking normally doesn’t always provide this. Extra support for your child may include:
MCT (medium chain triglyceride) formulas and diets
MCT is a type of fat. It is more easily absorbed and is a good source of energy. Your child’s dietitian will prescribe special milk formulas and supplements containing MCT. They will also provide a list of suitable foods for older children.
Fat soluble vitamins (vitamins A, D, E and K)
These vitamins are usually given by mouth (orally). In some cases, they have to be given by injection.
Nasogastric feeding
Nasogastric feeding may be used if your child needs more calories or is not growing well. This involves passing a very thin, soft tube up the nose, down the back of the throat and into the stomach. A special milk formula will be given overnight using a pump. Parents/carers can be taught how to do this at home.
I was petrified of needing an NG tube for feeding but was really well supported when that day came. It gave her the energy to enjoy things again.
Medicines
The choice of medication for children with PFIC will depend on the PFIC type and the severity. The main purpose of the medicines is to reduce symptoms. In particular, doctors try to reduce the severe itching (pruritus). Medicines are also used to try and help slow down the disease.
Ileal bile acid transporter (IBAT) inhibitors
This type of drug works by blocking a protein called the ileal bile acid transporter (IBAT). This protein is present in the intestines and transports bile acids back into the liver. By blocking the protein, the drug reduces the amount of bile acids that build up in the liver. Clinical trials show that this may help limit liver damage and reduce pruritus (itching).
Cholestyramine
This drug mixes with bile acids in the small intestine. It then stops them being reabsorbed into the blood stream. In some cases, it may help to reduce itching (pruritus), but the results vary. It will not be given at the same time as vitamin supplements as it can stop them being absorbed properly.
Ursodeoxycholic acid
This is a bile salt that occurs naturally in small amounts in bile. Taking it as a medicine can help improve bile flow out of the liver. This can reduce jaundice and/or itching (pruritus) and can help improve liver function. It has been found to be particularly useful in MDR3 deficiency.
Rifampicin
This is an antibiotic used to treat various conditions. It is not licensed to treat itch (pruritus) but is often used by liver doctors to help with this symptom. It is used very carefully in severe liver disease because it can cause a rise in liver function tests.
Rifampicin is a red colour and it can make wee (urine), spit (saliva) and tears turn orange/red. This side-effect is harmless.
Other medicines which have been used to treat itch (pruritus) in some children include:
- Phenobarbital
- Naltrexone
- Ondansetron
Some medicines in PFIC are used “off-label”. This means they were developed for other diseases, but sometimes work in PFIC. The response to off-label medicines can vary. There is currently no strong evidence to show that they are effective in children with PFIC.
I used to love some of my medications when I was little. I used to give it to myself from when I was a baby. I actually miss the taste of some of them now!
Potential operations
Not all children and young people respond well to dietary support and medicines. Sometimes they do not give enough relief from itching (pruritus). In a small number of children, the medical team may consider surgery. They will carefully assess your child’s condition before recommending any of these operations. Not all operations will be suitable for all children.
Partial external biliary diversion (PEBD)
This is only suitable for children who do not have advanced liver disease. During the operation, the surgeon opens the end of the gallbladder. They bring it out through the skin to form an opening known as a stoma. This sits on the surface of the tummy (abdomen). Your child would need to wear a bag over the stoma to collect bile. In some cases, the surgeon uses a short section of small intestine to connect the gallbladder to the surface of the tummy (abdomen).
Partial internal biliary diversion (PIBD)
During this operation the surgeon connects the gallbladder to the large intestine. This is done using a piece of small intestine. There is no need for a bag on the outside of the body.
Ileal exclusion (IE)
During this operation the surgeon creates a bypass around a part of the bowel called the distal ileum. The aim is to reduce the amount of bile salts re-entering the bloodstream. There is no need for a bag on the outside of the body.
Liver transplant
Many children with PFIC will need a liver transplant at some point in their life. This may be during childhood or when they are an adult. This is because the treatments available may only give some relief from symptoms. They are not a cure and can only slow down liver disease.
A liver transplant is an operation to remove a liver that does not work. It is replaced with a healthy liver from another person (donor). Children with PFIC may receive a whole, split or reduced liver from a deceased donor. It is also possible that they may receive part of a liver from a living donor.
A successful liver transplant will help a child survive when the liver is failing. It will also significantly improve a child’s quality of life. It is currently the only definitive treatment for PFIC.
It is important to remember that a liver transplant is a major operation. It will only be done after the benefits and risks have been carefully weighed up. Following a successful liver transplant children will need lifelong medication and follow up.
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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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