Alagille Syndrome in Children

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Alagille syndrome is a rare, inherited disorder that affects bile flow from the liver. Bile flow is reduced in patients with alagille syndrome and there are fewer bile ducts than normal.

Alagille syndrome may affect a child’s eyes, face, heart, kidney, brain, pancreas and spine. Alagille syndrome patients may suffer from enlarged livers, heart murmurs and whitish nodules on the skin due to cholesterol and fatty deposits.

Symptoms may include jaundice, severe itching and white nodules on the skin, loose or clay-colored stool, poor growth, insufficient weight gain, and deficiency of vitamins A, D, E and K.

The diagnosis of alagille syndrome includes physical, eye, and heart exams, liver biopsies, X-rays and genetic tests.

Treatments for alagille syndrome

Treatments for alagille syndrome are designed to increase the flow of bile from the liver, maintain normal growth and nutrition, decrease itching and reduce cholesterol in the blood. These treatments include:

• High-calorie diet:  Some children with alagille syndrome have difficulty absorbing the calories they eat, which can lead to slow growth rates. The hepatologist may recommend a high-calorie in special fats (MCT oils, which is easier to absorb), high-protein diet. In some cases, a feeding tube may be used.

• Vitamins: Fat-soluble vitamins may be used for children with alagille syndrome who have difficulty digesting fat and vitamins. Baby formula rich in triglyceride may be used in infants.

• Medication: Medicines can reduce cholesterol and may relieve the severe itching caused by the buildup of bile in the blood.

• Surgery: Severe itching that doesn't respond to medical management may be relieved by surgeries that divert bile away from the body or decrease bile absorption. Examples include partial external biliary diversion (PEBD) and ileal exclusion.

• Liver Transplant: In about 25% of children with alagille syndrome, a liver transplant is the best option to treat severe itching and growth failure. Phoenix Children’s Hospital’s UNOS-certified liver transplant facility is the only pediatric liver transplant facility within a hospital in Arizona.