Alagille syndrome is a genetic disorder that involves problems with multiple organ systems
Children with alagille syndrome often have signs including yellow skin or eyes (jaundice), heart murmur and kidney disease. Some people might never know that they have the gene for this syndrome. Other people with Alagille syndrome can get very sick.
Alagille syndrome is diagnosed based on a combination of symptoms. A gene test also is used, but takes a couple of months to get the results. The liver team will do other tests to make sure that a different cholestatic liver disease is not causing jaundice.
Specialists in the liver disease clinic will provide the following care:
- Introduce good nutrition. Children with Alagille syndrome often are small for their ages because they do not absorb fats and nutrients normally. They are seen by a dietitian on the liver team, and may need special formula or vitamins to help their growth and development.
- Monitor liver function. When bile does not drain very well, it backs up and causes damage to the liver. Medicine is used to help the bile flow. Blood tests are important to watch your child's liver function.
- Help children cope with xanthomas and itching. Some children with Alagille syndrome have itching on their skin due to jaundice. They also may develop xanthomas, patches of cholesterol that look like white mosquito bites, on the skin. We will prescribe medications and discuss comfort measures with families to help children cope.