Cystic Disease of the Liver

Cystic disease of the liver is rare and can take several forms. Cysts (a small fluid-filled growth that develops within the liver tissue) in the main trunk of the biliary tree are called choledochal cysts. Cysts that occur in the small branches of bile ducts within the liver are referred to as Caroli’s syndrome. The other cysts in the liver that do not occur in the biliary tree are referred to as polycystic liver disease.

What is a choledochal cyst?

This condition typically occurs in the main part of the biliary tree (common bile duct) and typically occurs because the bile duct is structurally abnormal (dilated), probably from the time of birth.

Eventually, usually by age two or three, but sometimes not until adolescence or adulthood, bile accumulates in the duct resulting in damage to the duct and formation of a fluid-filled sac or cyst which then prevents bile from reaching the intestine. When this happens, bile backs up into the liver and the patient develops jaundice (a yellowing of the skin and eyes). Occasionally, this accumulated bile becomes infected, causing abdominal pain and fever. In some patients the cyst can be felt by the doctor examining the abdomen. In most patients the diagnosis can be confirmed by ultrasound or by injecting a radioactive substance which gives an “image” of the abnormal duct. Choledochal cyst is treated surgically. The abnormal bile duct is removed and a piece of intestine is used to replace it. In most cases, surgery permanently corrects the disease. Rarely, infection in the newly formed biliary tree can reoccur. If the condition is not correctly diagnosed, the blockage of bile may result in scarring in the liver (cirrhosis).

What is Caroli’s syndrome?

Caroli’s syndrome (intrahepatic ductal ectasia) is a rare congenital disease (existing from the time of birth). It is probably inherited. In this condition, the small branches of the biliary tree in the liver are abnormal. Small fluid-filled cysts and narrowed segments of the bile ducts are present instead of the normal smooth bile ducts. Some ducts can be dilated. These abnormalities may be present throughout the liver, or may be limited to only a small area. If the biliary tree becomes infected, the patient develops fever, abdominal pain and, rarely, jaundice. This complication may first appear in childhood or may not occur until middle age. This disease is usually diagnosed by using radioisotopes to “image” the biliary tree. Other procedures include injecting dye by inserting a needle through the skin into the liver (percutaneous transhepatic cholangiogram) or by using a tube to pass dye through the intestine up into the bile duct (endoscopic retrograde cholangiography).

What is congenital hepatic fibrosis?

In patients with congenital hepatic fibrosis, there is abnormal growth of fibrous (scar) tissue around the small branches of the bile ducts in the liver. As a result, the liver becomes enlarged and hard and blood can no longer flow freely through the liver. This can result in damage to the liver and create high amounts of pressure (portal hypertension) within the blood system. Blood from the intestines, is then forced to find a new way around the liver through new vessels. Some of these new blood vessels called “varices” which form primarily in the stomach and esophagus become quite large. These varices may rupture due to high blood pressure (portal hypertension) and thin vessel walls, causing bleeding in the upper stomach or esophagus. Patients with this condition are usually discovered in childhood, either because they get an enlarged liver or because of bleeding. The diagnosis is proven by liver biopsy and x-rays of blood vessels. There is no specific treatment for this condition but many patients require rerouting of blood from the intestines (shunt operation) to prevent bleeding.

What is polycystic liver disease?

In patients with polycystic liver disease, large fluid-filled cysts separate from the biliary tree develop in the liver. In severe cases, the liver looks like a sponge. These cysts may cause pain in some people, but do not affect liver function. In most patients, the kidneys are similarly affected with cysts, which may cause high blood pressure and kidney failure. The tendency to form cysts is probably present at birth in these patients, but usually the cysts do not enlarge and cause problems until adulthood. This condition may be detected using ultrasound or CAT scan and x-rays of the kidney (intravenous pyelogram). Polycystic disease is inherited and once it has been detected in one member of a family, all the patient’s relatives should be tested for it. There are two major categories of polycystic disease of the liver and kidney. In the more benign form, the cysts are mostly in the liver and kidney function is near normal. These patients have normal life expectancy. However, patients who have kidney damage need treatment for the equivalent
of polycystic kidney disease.

Support

National Help Line:
This support resource gives you and your loved one somewhere to turn for answers after diagnosis, helps you understand your disease, and provides you with the resources you need.  You can call 1 (800) 563-5483 Monday to Friday from 9 AM to 5 PM EST.

The Peer Support Network:
This is a national network of people living with liver disease that have offered to share their experiences with others. It was developed by the Canadian Liver Foundation as a means to link Canadians like you who have a family member who has liver disease, who care for someone who suffers from liver disease, or who have been diagnosed with a liver disease, to talk about your concerns with a peer in a similar situation.

If you would like to be connected with a Peer Supporter in your area, or would like to join the Peer Support Network, please fill out the Peer Support Network Sign-up Form.