Congenital liver defects are liver disorders that are present at birth. They are rare. These liver disorders usually block the bile ducts. This affects the flow of bile. Bile is a fluid made in the liver. It helps with digestion. The bile ducts take bile from the liver and bring it to the gallbladder to be stored. Then they carry bile to the small intestine for digestion.
When the bile ducts are blocked, bile builds up in the liver. This damages the liver.
Some congenital liver defects include:
Healthcare providers don't know the exact cause of congenital liver defects. Most likely they are caused by something that occurred as the unborn baby was developing or around the time of birth. This might happen because of one or more of the following:
Congenital liver defects that affect the flow of bile share some common symptoms. Each child’s symptoms may vary, but may include:
The symptoms of congenital liver defects may look like other health problems. Always talk with your child's healthcare provider for a diagnosis.
In most cases, congenital liver defects that affect the flow of bile are diagnosed at birth or soon after. Your child’s healthcare provider will take a full health history and do a physical exam. Your child may also have tests. These include:
Treatment will depend on the type of congenital liver defect your child has. Surgery may be needed.
If your child has a choledochal cyst, he or she must have surgery to remove the cyst and allow normal bile flow. The type of surgery will depend on where the cyst is located, as well as other factors.
Infants with biliary atresia are treated with a type of surgery called the Kasai procedure. This removes the damaged bile ducts and replaces them with a section of small intestine. Bile then flows right to the small intestine. A liver transplant may be needed.
If untreated, congenital liver defects can lead to liver damage and death. They can lead to infection, narrowing (stricture) of bile ducts, stones, long-term liver problems, and sometimes cancer.
Once surgery is done and the defect is repaired, children can often lead healthy lives. This will also depend on how much liver damage occurred before the surgery.
If your child had a liver transplant:
After treatment, your child should be checked regularly by his or her healthcare team.
Your child's provider may suggest support groups. This can help you and your child adjust to his or her condition.
If you child has any symptoms of a congenital liver defect, call your child's provider right away. Also call the provider if your child develops symptoms after treatment.
If your child had a liver transplant, ask your child's healthcare team what rejection symptoms you should look for. Also ask them when to call your child's healthcare provider.
Tips to help you get the most from a visit to your child’s healthcare provider: