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Alagille syndrome is a genetic syndrome that can affect the liver and other parts of the body. The liver problems result from having fewer small bile ducts than normal in the liver. This leads to bile building-up inside the liver, which in turn causes liver scarring and damage. Signs and symptoms of Alagille syndrome are generally noticed in infancy or early childhood. Type of symptoms and severity varies greatly, even among people in the same family, so that in some cases the symptoms are severe, and in others, very mild. The liver problems may be the first symptoms of the syndrome, and may include yellow color of the skin and whites of the eyes (jaundice); itchy skin; bumps on the skin caused by deposits of cholesterol and fats (xanthomas); pale, loose bowel movements; and poor growth. Alagille syndrome can also affect other parts of the body including the heart, brain, kidneys, blood vessels, eyes, face, and skeleton. People with Alagille syndrome may have distinctive facial features too, including a broad, prominent forehead, deep-set eyes, and a small, pointed chin.
Alagille syndrome is caused by changes or mutations in the JAG1 and NOTCH2 genes. Inheritance is autosomal dominant. However, in about half of cases the mutation occurs as a new change ("de novo") without being inherited from either parents. While there is no known cure for Alagille syndrome, there are treatments that can help control symptoms. Possible treatments may include medication that increases the flow of bile and careful management of diet to minimize nutrition and vitamin related problems. In severe cases, a liver transplant may be necessary.
Source: GARD Last updated on 05-01-20
Alagille syndrome is a complex multisystem disease involving the liver, brain, heart, eyes, face, and skeleton. Symptoms typically present in infancy or early childhood. The severity of the syndrome varies greatly, even within the same family. Symptoms range from so mild as to go unnoticed to severe enough to require heart and/or liver transplants. Symptoms may include:
More information about the symptoms associated with Alagille syndrome can be found on the Children's Hospital of Philadelphia (CHOP) Alagille Syndrome information page and GeneReviews Alagille Syndrome Report.
Last updated on 05-01-20
Some people with Alagille syndrome only have one or two minor findings associated with the syndrome, such as one of the harmless eye findings, butterfly vertebrae, innocent heart murmurs, or characteristic facial features. In fact, before genetic testing, a person with only these findings would not have been diagnosed with Alagille syndrome. People with only minor findings will not need treatment and can lead normal, productive lives unaffected by the complications of the syndrome. However, they do have a 50% chance of passing the genetic change causing Alagille syndrome onto each of their children, and it is not possible to predict how severely affected any of their children who inherit Alagille syndrome will be.
For those with more serious symptoms of Alagille syndrome, the outlook depends on several factors, including the severity of liver damage and heart problems, and the early and continued correction of nutrition problems. Predicting who will experience improved bile flow and who will progress to end-stage liver failure is difficult since for some liver function improves over time. About 15% or more of the people with Alagille syndrome will eventually require a liver transplant.
Children born with severe heart problems or who have serious liver problems may have a shortened lifespan. However, due to improvements in liver and heart therapies, people are living longer, and those who respond well to the treatments and management of the syndrome, may lead normal, productive lives as adults. Deaths associated with Alagille syndrome are most often caused by liver failure, serious heart problems, or blood vessel abnormalities that cause bleeding in the brain or skull or strokes.
Last updated on 05-01-20
Many doctors may be necessary for the best management of Alagille syndrome, including specialists in medical genetics, gastroenterology (for digestive system and liver problems), nephrology (for kidney problems), nutrition, cardiology (for heart problems), ophthalmology (for eye problems), liver transplantation, and child development. Treatment may include:
Heart problems may complicate liver transplantataion, especially, pulmonary artery stenosis with right ventricular pressure overload. In these cases a procedure known as congenital heart transcatheter intervention may be done before the liver transplant.
Last updated on 05-01-20
The American Liver Foundation provides information about Alagille syndrome. Click on the above link to view this information.
Last updated on 04-27-20
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