PFIC (Progressive Familial Intrahepatic Cholestasis)

Key points

  • PFIC (Progressive Familial Intrahepatic Cholestasis) is a group of rare genetic liver diseases mainly seen in children but also in adults
  • It affects how the body transports bile from the liver to the bowel
  • PFIC causes very severe itching and problems with nutrition
  • Medicines, special formula and vitamin supplements are used to treat the effects of PFIC
  • PFIC can damage the liver and some children may need a liver transplant
  • New medicines called iBAT inhibitors are improving the outlook for children with PFIC

Progressive: Symptoms can get worse over time

Familial: It runs in families and is due to changes in genes

Intrahepatic: Involves disease inside the liver

Cholestasis: Poor bile flow and build-up of substances in the liver that would normally be carried out of the liver into bile and then the intestines


What is PFIC?

PFIC stands for ‘Progressive Familial Intrahepatic Cholestasis’. It is a group of rare liver diseases. PFIC usually starts in childhood but sometimes comes on later in life.

PFIC affects how the liver transports  bile from the liver cells (where it is made) to the bile ducts (tubes that carry the bile to the bowel). Bile is the yellow-green liquid that is made in  the liver, stored in the gallbladder and passes down the bile ducts into the small intestine. One of the important parts of bile is bile acids. These help to digest food by breaking down fat.

If a child has PFIC, the  bile acids are not properly carried to the bowel. This causes two main issues:

  • The body can’t absorb fat and vitamins properly
  • The bile acids that are made by the liver get stuck inside the liver and cause liver damage.

Diagram of the liver showing bile ducts and pancreas

 

Read more about PFIC

Why did I or my child get PFIC?

PFIC is a genetic condition. Some genes are defective (go wrong) so the body can’t make the proteins it needs to carry bile.

These defective genes are inherited, usually one from each parent. One defective gene (in the parent) does not cause illness. But having two defective genes (in the child)  can cause illness.

Because so many different proteins are involved in carrying bile, there are many types of PFIC. New types are being discovered each year.

The most well-known are PFIC types 1, 2 and 3. It is also possible to have PFIC type 4 to 10, but these types are much rarer.


What are the symptoms of PFIC?

Symptoms may be different for each type of PFIC. But overall, the symptoms of PFIC include:

  • Jaundice in babies (yellowing of the skin and whites of the eyes)
  • A severe itch that never goes away (the medical term for itching is pruritis)
  • Not growing properly
  • Diarrhoea
  • Lack of certain vitamins in the body
  • Pale stools (poo)
  • Unexplained bruising

The itch is unlike any other, it comes from the inside and is due to a build-up of bile. Itch is in most cases non-stop and felt all over the body. The itch is unforgiving. Patients and therefore caregivers do not sleep, cannot focus on an activity and quality of life is very poor. This itch is so exceedingly bad that transplant is often preformed before end stage liver disease takes hold as there is little to no quality of life. External creams do not work on PFIC itch.

One type of PFIC, also called BRIC (Benign Recurrent Intrahepatic Cholestasis), can come in episodes. This means symptoms get much worse for a while.

PFIC is not just a childhood illness. Some adults don’t discover they have PFIC until later in life. It can take a long time to get a diagnosis for some adults.

Some of the symptoms of some types of PFIC in adults include:

  • Gallstones
  • Severe itching
  • Abnormal liver tests with the oral contraceptive pill
  • Pregnancy and the oral contraceptive pill can trigger an episode

How is PFIC diagnosed?

If you or your child has some symptoms of PFIC, your doctor will take some blood tests. They might order genetic tests to find out which genes are wrong.

 

Learn more about diagnosis Read more about liver tests

 

How is PFIC treated?

Treatment includes helping the child with nutrition and treating the symptoms.

Nutrition

To improve nutrition, your child might need a special formula. The type of fat in the special formula does not need bile to be absorbed, so the child can gain weight.

Your  child maybe prescribed vitamin supplements, in particular vitamins A, D E and K.

Treating symptoms

One of the most distressing symptoms in certain types of PFIC is the itching.  There is currently no approved medication that can significantly help itch.  A number of medicines can be used to try and reduce itch such as antihistamines, rifampicin, ursodiol, and cholestyramine.

There is also a type of surgery called biliary diversion that can relieve the itch.

More recently, trials of an exciting new class of medicines called iBAT inhibitors have shown they can stop the itch in at least half of children with PFIC. These medicines also seem to improve sleep and growth too. It is hoped that longer term studies will show that these medicines keep the liver healthier for longer.

iBAT inhibitors are approved for use overseas but not yet in Australia. However, Australian children can get access to them via a compassionate access program. You need to see a paediatric gastroenterologist to help you access this program. Ask your doctor for a referral.

If the liver damage caused by PFIC can’t be stabalised, your child may need a liver transplant. Liver transplantation in children has been done for over 35 years in Australia with excellent results.

Learn more about treatment

What is the outlook for a child with PFIC?

The journey with PFIC is different for every child. This is because it depends on the type of PFIC and other factors in the child’s genes.

A baby with PFIC will need to be looked after like any other baby. They may need special formula and vitamins as well as medicines for the itch. You will need to take them regularly to see a paediatric gastroenterologist. This doctor may adjust treatment to suit your child.

Some children will experience severe liver disease early in life and need a liver transplant.

Others will have several years of good life with medicines and supplements. They will attend school, go to parties, and do all the things that children do!

The last few years have seen a lot of progress in research, advocacy, and new treatments for PFIC. There is more information about the outlook for children with PFIC below.


Information and support


What next?

Read more about living well

 

Reviewed November 2023

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