What is Alagille Syndrome?
Alagille syndrome — also known as Alagille-Watson syndrome, syndromic bile duct paucity and arteriohepatic dysplasia — is a genetic disorder that affects the liver, heart and other systems of the body. The problems associated with Alagille syndrome usually become evident in infancy or early childhood.
What are the symptoms of Alagille Syndrome?
Alagille syndrome has many varied signs and symptoms. The symptoms of Alagille syndrome may include:
- Liver damage
- Tetralogy of Fallot (congenital heart problems)
- Butterfly-shaped vertebrae
- Broad, prominent forehead
- Deep-set eyes
- Small, pointed chin
- Kidney problems
- Central nervous system problems
Diagnosing Alagille Syndrome
A diagnosis of Alagille syndrome historically required that a person have bile duct paucity (too few bile ducts in the liver) in addition to at least three of the characteristic symptoms associated with Alagille syndrome. However, because the symptoms and severity of Alagille syndrome can vary widely the disease has historically been difficult to diagnose.
Today, there are a number of diagnostic tests that can be performed to rule out other diseases and to help make a diagnosis of Alagille syndrome. These tests may include:
- Liver function evaluation
- Heart function testing
- Eye evaluation
- Genetic testing