Quick Summary

• Alagille syndrome is a rare genetic condition. It mainly affects the liver, but can also affect other parts of the body, including the heart, kidneys, eyes, face, skeleton and blood vessels.
• Alagille syndrome happens in around 1 in 30,000 to 1 in 50,000 births.
• Some children have a mild form of the condition. Other children have a more severe form and may be very unwell early in life.
• A diagnosis can be difficult in young babies because the condition looks similar to other types of liver disease. Tests may include blood tests, scans and biopsies.
• Liver symptoms may include itching, yellow bumps on the skin (xanthomas), jaundice, pale poo, dark wee and faltering growth.
• There is no cure for Alagille syndrome, but dietary support, medicines and other treatments can help manage liver symptoms and complications.
• A liver transplant is an operation to replace a damaged liver with a healthy one from a donor. This will only be considered if your child has cirrhosis, liver failure or severe symptoms that cannot be controlled.
• A small number of people are diagnosed with Alagille syndrome as adults. Adults are diagnosed and treated in a similar way to children.

Find out more about Alagille syndrome using the links below.

Useful words

Bile – a green/yellow liquid that helps digest fat.

Gene’s – the body’s instructions.

Jaundice – a condition where the skin or eyes turn yellow.

Pruritus – a medical word for itching