Congenital hepatic fibrosis

Congenital hepatic fibrosis is a rare liver disease caused by abnormal development of the biliary system.

About Congenital Hepatic Fibrosis in children

The biliary system includes the gallbladder and bile ducts inside and outside the liver where they connect the liver to the small intestine. Liver cells make bile and through the biliary system empty it into the small intestine where it helps with digestion of food. In congenital hepatic fibrosis, the bile ducts and some of the blood vessels in the liver do not form normally, meaning that the disease is present at birth although it may not be recognized until later. The problem in development of the bile ducts and blood vessels leads to a build-up of scar tissue, also called fibrosis, around the bile ducts and blood vessels in the liver (together, these are sometimes called the portal tract). This scar tissue makes it difficult for the liver to function normally and leads to several different symptoms. Congenital hepatic fibrosis can occur by itself but is often seen as part of a syndrome where the kidneys also do not develop normally, such as polycystic kidney disease. In these syndromes, there is a change in the child's genes which leads to the abnormal development of their biliary system and kidneys.

What are the symptoms of Congenital Hepatic Fibrosis?

The symptoms of congenital hepatic fibrosis are caused by the build-up of scar tissue which makes it hard for the liver to do its job. Not every patient will have every symptom, and how bad the symptoms are depends on the patient. Some symptoms and complications include: high blood pressure in the liver (portal hypertension), enlarged liver and spleen, abnormal shape of the liver, infections of the bile duct, gallstones, bleeding, malnutrition, vitamin deficiencies, and occasionally cancer of the liver or biliary system.

How is Congenital Hepatic Fibrosis diagnosed in children?

The biliary system abnormalities from congenital hepatic fibrosis can often be seen on imaging studies. This may include an ultrasound or special type of MRI called magnetic resonance cholangiography or MRCP. A liver biopsy (en Español) may be needed to confirm the diagnosis or to monitor worsening of the disease. In addition, blood work is useful in monitoring the amount of liver injury and checking on liver function.

What is the treatment for Congenital Hepatic Fibrosis?

Unfortunately, there is not a cure for congenital hepatic fibrosis. Most of the treatment focuses on treating the symptoms and complications of the disease such as using antibiotics to treat infection and giving extra vitamins to make up for the poor absorption from the damaged biliary system. Other treatment may include medications or procedures to help prevent and remove gallstones, and to prevent bleeding from blood vessels in the esophagus called varices. Some patients require liver transplant due to the complications from the disease.

What is the long-term outlook of Congenital Hepatic Fibrosis?

How patients with congenital hepatic fibrosis do long term, or their prognosis, is determined by how severe their symptoms are, how many complications they have, and whether or not they have other systems affected (such as their kidneys). There is an increased risk of a certain type of cancer in patients with congenital hepatic fibrosis and all patients require routine screening visits and long-term monitoring to ensure their health.

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