Alagille Syndrome| Diagnosis & Treatment

How is Alagille syndrome diagnosed?

Although Alagille syndrome is present from birth, it is often not diagnosed until later in childhood, particularly in less severe cases with few symptoms.

To diagnose Alagille syndrome, a clinician will typically conduct a physical examination and order some or all of the following tests:

Even with extensive testing, Alagille syndrome is difficult to diagnose. If three or more of the following conditions are present, clinicians feel more confident diagnosing Alagille syndrome:

  • symptoms of liver disease such as jaundice, dark urine, or white or gray stool
  • heart murmur
  • butterfly shaped bones in the spine
  • kidney disease
  • partially opaque cornea of the eye, a condition known as posterior embryotoxon
  • facial features associated with Alagille syndrome: pointy chin, broad brow and widely spaced eyes

How is Alagille syndrome treated?

Treatment focuses on increasing the flow of bile from the liver to the digestive tract and promoting healthy physical development. Other treatments can alleviate the symptoms of Alagille syndrome and help make children more comfortable.

Medication

A prescription drug called ursodil (ursodeoxycholic acid) can increase the flow of bile from the liver and lower cholesterol levels in the blood.

Antihistamines and other medications often help relieve the itchiness associated with the decreased bile flow.

Nutritional supplements may help the child digest certain types of dietary fat, which can in turn help the child absorb vitamins A, D, E and K.

Surgery

Currently, there is no surgical procedure that can correct the bile duct system. A liver biopsy may be necessary for an accurate diagnosis.

What is the long-term outlook for children with Alagille syndrome?

A child’s long-term outlook depends on how severely they are affected by Alagille syndrome. Ten to 30 percent of people with Alagille syndrome eventually develop advanced liver disease and need a liver transplant.

With proper treatment, however, many people with Alagille syndrome live healthy, normal lives.