The flow of bile through the body is reduced.
This decrease in bile flow leads to a buildup of bile in the liver and blood, causing an increase in bile acids throughout the body.
When bile flow from the liver is reduced, it causes liver damage.
Alagille syndrome is a genetic, multisystem disease that can affect different parts of the body, including the liver. The liver makes a fat-digesting fluid called bile. Bile flows from the liver to the gallbladder and small intestine through a network of tubes called bile ducts.
For people who have Alagille syndrome, bile does not properly drain from the liver because the bile ducts are too small, they are formed improperly, and/or there are fewer than normal. This means that bile and bile acids have a hard time getting out of the liver. When bile acids build up in the liver, it can cause damage and prevent the liver from working properly to remove wastes from the bloodstream. This causes an increase in bile acids throughout the entire body.
Bile buildup can cause many problems in people with Alagille syndrome, but the most troublesome is often severe itch.
The unbearable itch caused by the buildup of bile acids can greatly affect your or your child’s life and emotional well-being. Some people scratch so often that it causes bleeding and scarring. Even more, constant itching can cause anxiety and trouble sleeping.
Keeping a day-to-day log of itch severity can help you and/or your child notice changes over time. It can also give your doctor important information about how the itch might be treated differently if greater relief is needed.
Download Itch✓ from the Apple App Store® to start logging signs and symptoms such as growth changes and itch severity, both for your own documentation and for future discussions with your doctor.
Alagille syndrome can often be difficult to diagnose because it has signs and symptoms similar to those of other liver diseases, such as biliary atresia. There are several ways to diagnose Alagille syndrome, such as liver function tests, heart evaluations, eye exams, ultrasounds, and genetic testing.
Alagille syndrome can develop by chance with no history of the disease in the family. However, in up to 50% of cases, the disease is passed down from a parent.
Genetic testing is a useful tool for confirming a diagnosis of Alagille syndrome. Doctors will look for a change or loss that commonly occurs in one of 2 genes—JAG1 and NOTCH2. Sometimes, the change occurs in a different gene that cannot be identified. Changes in either the JAG1 or NOTCH2 gene can affect the heart, spine, certain facial features, and bile ducts in the liver.
Beyond diagnosing Alagille syndrome, genetic testing can help your doctor understand what types of treatment might be necessary.
Treatment for Alagille syndrome can differ from one person to another for many reasons, such as age, overall health, treatment preferences, and more.
Doctors often prescribe medicines to help address these symptoms. Your doctor may also recommend monitoring Alagille syndrome with bloodwork to check liver function, bile, cholesterol, and vitamin levels. If the symptoms can’t be properly managed another way, your doctor may recommend surgery or a liver transplant.
Currently, there is a medication approved for one of the most troublesome symptoms in Alagille syndrome—itch.
Promising research continues for medicines that treat the underlying cause of liver-related problems in Alagille syndrome.
Living with Alagille syndrome can feel isolating, but you and/or your child are not alone.
Every person and family living with Alagille syndrome can benefit from a reliable support system. Having people to talk to can help with your overall emotional health and well-being. This Support System Discussion Guide can help you talk to the people around you about Alagille syndrome and how it impacts your family.
Advocacy Groups support the Alagille syndrome community by putting patients first, spreading awareness, and advancing research about Alagille syndrome.
The Alagille Syndrome Alliance (ALGSA) is a non-profit organization with a goal of supporting the Alagille syndrome community by mobilizing resources, facilitating connections, promoting unity, and advocating a cure to inspire, empower, and enrich the lives of people affected by Alagille syndrome.
Yellow Alert is the Children’s Liver Disease Foundation’s awareness campaign promoting the early identification of liver disease in infants and their referral.
Children’s Liver Association for Support Services (CLASS) is an all-volunteer group helping children affected with liver disease by addressing the emotional, educational, and financial needs of families.
Mirum Pharmaceuticals is dedicated to supporting patients and families living with Alagille syndrome. In support of this commitment, Mirum is providing resources and conducting research to help children make the most of their childhoods.
From discussion guides to symptom tracking tools, there are resources designed to help you and your loved ones, all in one place.
Apple logo®, App Store®, and iPhone® are registered trademarks of Apple Inc.