Quick Summary

• Fibropolycystic liver disease is a collective term for a group of rare conditions. These conditions affect the liver and the biliary tract. They may also involve the kidneys.
• The term fibropolycystic liver disease covers a number of different conditions.
• The conditions are grouped together because they begin in the body in the same way. They all start before birth.
• There is often some overlap between the conditions. Your child may have one condition, or a combination of more than one.
• The symptoms and complications of the different conditions can vary widely.
• The conditions often involve the development of cysts. Cysts are pockets of tissue filled with fluid that develop inside an organ. They can also occur in the bile ducts.
• There will often be problems in the kidneys that go alongside those in the liver.
• Treatments focus on reducing symptoms and complications. There are currently no cures available.
• Your child may see a range of professionals. This may include liver doctors, kidney doctors, specialist nurses, radiologists, and surgeons.

Find out more about fibropolycystic liver disease using the links below.

What is fibropolycystic liver disease?

Fibropolycystic liver disease is a collective term for a group of rare conditions. These conditions affect the liver and the biliary tract. They may also involve the kidneys.

This section covers the following conditions:

• Congenital hepatic fibrosis
• Caroli disease
• Caroli syndrome
• Biliary hamartomas
• Polycystic liver disease

These conditions are grouped together because they all begin in the body in the same way. This also means there is often overlap between them. Your child may have one of these conditions or a combination of more than one. The conditions are all caused by changes (mutations) in a person’s genes. Some genetic changes are ‘autosomal recessive’. This happens when both parents are carriers of the change and pass it on to their child. Other genetic changes are ‘autosomal dominant’. This means that only one parent carries the change and they pass this on to their child.

Fibropolycystic liver diseases begin before birth. They happen when ductal plates do not form properly during the early stages of development. Ductal plates are layers of cells that form the basis for the development of bile ducts. You may hear this called
‘ductal plate malformation’.

The signs, symptoms and complications for each condition can vary widely. They almost always involve the development of cysts or unusually shaped bile ducts.

Due to the different organs involved, your child may see a range of professionals. This may include:

• liver doctors (hepatologists)
• kidney doctors (nephrologists)
• specialist nurses
• radiologists
• surgeons

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What are cysts?

Cysts are pockets of tissue filled with fluid that develop inside an organ. They can grow larger over time. This may reduce the ability of an organ to carry out its normal job. It can also cause a range of symptoms.

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Useful words

Biliary tract – the tubes that carry bile from the liver and gallbladder into the intestine

Fibrosis – a build-up of scar tissue

Genes –the body’s instructions