What is congenital hepatic fibrosis?

Congenital hepatic fibrosis (CHF) is a rare genetic condition. It happens in around 1 in every 20,000 births.

If CHF happens on its own, it is called isolated congenital hepatic fibrosis. This is very rare. In most cases, CHF happens alongside other diseases that affect the liver and kidneys. This is why liver doctors, when making a diagnosis of CHF in a child, will always screen for kidney disease.

CHF is generally not associated with cysts. The main problem in this condition is stiffening of the liver. This is caused by liver scarring (fibrosis). This scarring generally gets worse as children and young people get older. But the speed and severity of scarring will vary from child to child. Most cases first show in children and teenagers. But some people are diagnosed as adults.

In CHF, scarring mainly affects the structure of the liver and not the liver cells. This means that the liver will usually keep doing its job. This is why some children show no symptoms.

In children with congenital hepatic fibrosis, scarring (fibrosis) of the liver can become worse over time. This can lead to severe scarring, known as cirrhosis. This may happen in adulthood.

In some children, when CHF is diagnosed, scans also reveal cysts or unusually shaped bile ducts. This is called Caroli syndrome.

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How is congenital hepatic fibrosis diagnosed?

CHF may only be diagnosed when your child is being tested for something else. A diagnosis may also happen if they have portal hypertension. This is a complication of liver scarring.

Tests used to help with the diagnosis may include:

• physical examination
• blood tests
• genetic tests
• abdominal ultrasound scan
• liver biopsy
• endoscopy (if portal hypertension is suspected)
• magnetic resonance imaging (MRI) / magnetic resonance cholangiopancreatography (MRCP)
• endoscopic retrograde cholangiopancreatography (ERCP)

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What are the symptoms of congenital hepatic fibrosis?

Children can start getting symptoms at any age. Some children never have symptoms.

Symptoms are often caused by a complication called portal hypertension. Symptoms may also be caused by infections in the bile ducts. Even if your child has symptoms, their liver will usually still be working well.

Symptoms may include:

• enlarged liver (hepatomegaly)
• enlarged spleen (splenomegaly)
• tummy (abdominal) pain
• vomiting blood (haematemesis)
• black, “tarry” poo (stools)
• high temperature (fever)
• yellowing of whites of the eyes and skin (jaundice)
• being sick (vomiting)
• gallstones (cholelithiasis)

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What are the possible complications of congenital hepatic fibrosis?

Possible complications include:

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How is congenital hepatic fibrosis treated?

There is no cure or specific treatment for congenital hepatic fibrosis. Medical care focuses on reducing symptoms and managing complications. Treatment varies from child to child depending on the severity of symptoms.

Treatments for portal hypertension and its complications may include:

• endotherapy to treat swollen blood vessels in the food pipe
• medication to help reduce blood pressure in the portal vein
• transjugular intrahepatic portosystemic shunt (TIPS)
• liver transplant

Find out more about liver transplant

Treatments for bile duct infection (cholangitis) and its complications may include:

• antibiotics injected into a vein (intravenous antibiotics)
• draining fluid from cysts (cyst aspiration) to reduce their size
• endoscopic retrograde cholangiopancreatography (ERCP) to treat narrow or blocked bile ducts
• percutaneous transhepatic cholangiogram (PTC) to treat narrow or blocked bile ducts
• liver transplant when there is repeated bile duct infection (cholangitis) and/or severe sepsis

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