Alagille syndrome

What is the outlook (prognosis) for individuals with Allagille syndrome?

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

How might Alagille syndrome be treated?

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:

  • Medication that increases bile flow (ursodeoxycholic acid) and that reduces the itching, such as cholestyramine, rifampin, and naltrexone.
  • Biliary diversion procedures (partial internal biliary diversion and ileal exclusion) that interrupt the normal bile circulation between the intestines and liver resulting in the bile being eliminated and therefore lowering the blood bile levels. These procedures relieve symptoms of liver disease, such as itching, and improve the quality of life, but do not prevent the progression of liver disease.
  • Vitamin and special nutrition supplementation to support proper growth and development. Infants with Alagille syndrome are given a special formula that helps the small intestine absorb the fats. The diet usually is a high-calorie diet, calcium, and with vitamins A, D, E, and K, and sometimes zinc. Sometimes a child may receive additional calories through a tiny tube that is passed through the nose into the stomach. If extra calories are needed for a long time, a doctor may place a tube, called a gastrostomy tube, directly into the stomach through a small opening made in the abdomen. Nutrition management may need to continue throughout a person's lifetime, but especially during childhood, with careful monitoring and balancing of nutrients, fat, calories, fat-soluble vitamins, calcium, and zinc. Each person with Alagille syndrome may have different dietary needs and the needs may change throughout their lifetime, so regular consultation with a nutrition specialists is recommended.
  • Liver Transplantation to increase life span and improve liver function for those with end stage liver disease. Although there is some catch-up growth after a liver transplant in children with Alagille syndrome, it is not as much as seen in children with other liver diseases.
  • Heart surgery or a catheter based procedure to correct a heart defect. Heart problems are treated the same as similar heart problems in children who do not have Alagille syndrome (standard medical care) although may be complicated if other organs are affected by the syndrome.
  • Kidney surgery or treatment to correct any kidney abnormalities. Kidney problems are treated the same as kidney problems in children who do not have Alagille syndrome (standard medical care), although may be complicated if other organs are affected by the syndrome.

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

Where To Start

Alagille syndrome

The American Liver Foundation provides information about Alagille syndrome. Click on the above link to view this information.

Last updated on 04-27-20

Name: Children's Liver Disease Foundation 36 Great Charles Street Birmingham, B3 3JY
United Kingdom
Phone: +44 (0) 121 212 3839 Fax : +44 (0) 121 212 4300 Email: Url:
Name: Alagille Syndrome Alliance ALGSA PO Box 4216
Wilsonville, OR, 97070, United States
Phone: 503-970-1255 Email: Url:
Name: Children’s Liver Association for Support Services 25379 Wayne Mills Place, Suite 143
Valencia, CA, 91355, United States
Phone: 1–877–679–8256 Fax : 661–263–9099 Email: Url:
Name: American Liver Foundation 39 Broadway, Suite 2700
New York, NY, 10006, United States
Phone: +1-212-668-1000 Toll Free: +1-800-465-4837 (Helpline) Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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