Alagille syndrome is a condition in which the liver has too few bile ducts. Children with this syndrome will typically experience a progressive loss of the bile ducts inside the liver and a narrowing of the bile ducts outside the liver within the first year of life. This leads to a buildup of bile in the liver, since it cannot flow from the liver properly. Bile is a fluid that aids in digestion and is usually stored in the gallbladder, but when bile builds up in the liver, it causes liver damage. Alagille syndrome affects other organs, including the heart, eyes, spine, kidneys and other parts of the body.
Alagille syndrome is typically genetic, meaning it is passed from parent to child. A parent with the syndrome has a 50 percent chance of passing the abnormal gene that causes the condition to each child. Sometimes a child can have a newly developed gene abnormality, meaning they did not inherit the condition from a parent.
A child who is born with Alagille syndrome will experience jaundice (yellowing of the skin and whites of the eyes), pale, loose stool and failure to thrive. Jaundice can cause severe itching but should improve in the first few years of life as bile flow improves. Children with this syndrome are often shorter than their peers, even when they receive adequate nutrition. Other common symptoms that lead to a diagnosis of Alagille syndrome may include:
If your child has symptoms of Alagille syndrome, a pediatric gastroenterologist will make a diagnosis through a physical examination and tests such as:
Doctors will do further blood tests on babies who have jaundice and some or all of the other common symptoms of Alagille syndrome.
There is no cure for Alagille syndrome. However, there are treatments that improve bile flow and address specific symptoms. Treatments for this syndrome include:
Visit the websites below to find support groups and services and learn more about Alagille syndrome.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
The American Liver Foundation is dedicated to promoting Alagille syndrome education, support and research.
This website provides in-depth information about Alagille syndrome in children.
The Gastroenterology, Hepatology & Nutrition Department at Riley at IU Health participates in the Childhood Liver Disease Research Network, a multicenter research network that investigates childhood liver conditions, including Alagille syndrome. Talk to your child’s doctor if you want to know more about this research or if you have questions about your child participating in one of these studies.
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