what is Alagille syndrome
About Alagille syndrome
Alagille (pronounced al-uh-jeel) syndrome is a rare liver disease. While a major feature of Alagille syndrome is liver damage, it can also affect other parts of the body, including the heart, eyes, skeleton, kidneys, face, and nervous system.
One of the most common symptoms of Alagille syndrome is bothersome itching known as cholestatic pruritus.
What causes Alagille syndrome?
Alagille syndrome is a genetic condition.
There are 2 different ways Alagille syndrome can occur:
When a gene for Alagille syndrome is passed down by a parent.
When a random change happens in a gene during the formation of reproductive cells or fetal development.
Not all people with genetic changes develop Alagille syndrome. Genetics can be complex and confusing, and it's understandable if you still have questions. If you would like to learn more, talk to your doctor.
What happens in the liver that causes symptoms of Alagille syndrome?
With Alagille syndrome, genetic changes make it difficult for bile acids to drain properly from the liver.
This can cause bile acids to build up in the liver to a level that may be harmful. Bile acids may also spill into the bloodstream.
The buildup of bile acids in the liver and the bloodstream may be the cause of itch (cholestatic pruritus) in Alagille syndrome.
Alagille syndrome can be progressive
“Progressive” means that Alagille syndrome may get worse over time.
How many people have Alagille syndrome?
Around 1 in 30,000 to 45,000 people have Alagille syndrome.
Alagille syndrome is a rare disease, but resources and support are available
How can I have better conversations with my doctor about Alagille syndrome?
The doctor discussion guide includes questions to ask your doctor and can help you track itch and itch-related sleep disruption.
Cholestatic pruritus, or itch, can be one of the most burdensome symptoms of Alagille syndrome