Alagille Syndrome

What is it?
Alagille syndrome is an inherited disorder that affects many systems of the body. Little is known about what causes it. A small number of people with Alagille syndrome have a genetic defect on Chromosome 20. It is estimated that the syndrome affects 1 in 100,000 people.

Alagille syndrome causes problems in the liver, heart, eyes, spine, and kidneys, although not all may be affected in the same person, or to the same degree. People with the syndrome often have a distinctive facial appearance.

What are the symptoms?
Within the first 3 to 6 months of life, symptoms may include:

• jaundice and skin itching (sign of liver disease)
• pale, loose stools
• poor growth
• heart murmur (sign of heart defect)

These symptoms may alert a physician to the existence of Alagille syndrome. If the syndrome is mild it may not be diagnosed until the child is older. Usually the child with Alagille syndrome has liver disease plus problems in two other systems of the body.

How is it treated?
Although there is no cure for Alagille syndrome, there are many treatments available to relieve its effects on the body.

• fat soluble vitamins (A, D, E, and K) (needed due to liver disease)
• cholestyramine (Questran) is given for high cholesterol and skin itching (due to liver disease)
• surgery may be needed to correct serious heart defects
• may need to take medicine for high blood pressure or other problems caused by kidney disease

If the liver disease becomes so severe that the liver no longer functions (about 15% of people with Alagille syndrome), a liver transplant may be necessary.

Information for this article was taken from:
- Children's Liver Association. Alagille Syndrome.
- Scheimann, A. (2002). Alagille syndrome. eMedicine, accessed at http://www.emedicine.com/ped/topic60.htm