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Alagille syndrome

Alagille syndrome

Alagille syndrome is a genetic disorder of the liver and other organs that causes reduced bile flow because of too few bile ducts inside the liver. The syndrome is usually diagnosed during infancy or early childhood.

Children who have Alagille syndrome have progressive destruction of the bile ducts inside and occasionally outside of the liver, causing bile to back up and cause scar formation in the liver. It is distinguishable from other liver diseases because it usually affects other major systems in the body, including the cardiovascular system, the bones of the spine, the eyes and the kidneys.

In addition, children with Alagille syndrome tend to have a typical face, with pointy chin, broad brow and widely spaced eyes.

What causes Alagille syndrome?

Alagille syndrome affects approximately one in 100,000 people. It is often a hereditary disease, and most patients have a defect in the Jagged 1 gene on Chromosome 20. If one parent carries the mutated gene, there is a 50 percent chance that each child will inherit the disease. Occasionally, neither parent has the syndrome but a new defect in the Jagged 1 or Alagille gene will occur and the child will be affected.

What are the symptoms of Alagille syndrome?

Initial symptoms include jaundice (yellowing of the eyes and skin) and poor growth during the first few months after birth. Beyond three months, symptoms may include:

Persistent jaundice
Severe itchiness
Cholesterol deposits in the skin (called xanthomas)
Stunted growth or poor weight gain
Heart murmurs (often caused by a narrowing of the arteries that go from the heart to the lungs)
Abnormal "butterfly" shape of the bones in the spinal column
Irregularities of the eyes (does not affect vision)
Abnormal kidney function
Specific facial features, including a broad forehead, deep-set eyes and small, pointed chin

How is Alagille syndrome diagnosed?

Although the disease is present from birth, it may not be diagnosed until later in childhood, depending on the severity. Alagille syndrome can be diagnosed through physical examination, or tests, such as such as an eye exam, spine X-ray, chest exam for a heart murmur, or typical findings on a liver biopsy.

What are the treatments for Alagille syndrome?

The primary goal of treatment for the liver in Alagille syndrome is to increase the flow of bile from the liver and promote normal growth of the child. Significant narrowing of the lung arteries may require intervention.

Patients are often prescribed ursodeoxycholic acid to increase the flow of bile from the liver and lower cholesterol levels in the blood. Antihistamines and other medications may be given to help relieve the itchiness associated with the decreased bile flow.

Nutritional supplements may be needed to help children digest types of dietary fat that can be difficult for the body to absorb due to reduced bile flow. Doctors may prescribe supplements of medium-chain triglycerides (MCT) oil, which is more easily digested.

Children may have difficulty getting enough vitamins, specifically vitamins A, D, E and K, due to problems with digesting dietary fat. Vitamin deficiencies can be diagnosed through simple blood tests, and most children can be given specific vitamin supplements orally.

Surgery is generally not recommended to treat the liver disease in Alagille syndrome, although a surgical biopsy may be necessary to accurately diagnose the condition in infancy. Currently, there is no surgical procedure that can correct the bile duct system. However, in the minority of children with advanced liver disease due to Alagille syndrome, liver transplantation may be a consideration.


		Programs that treat this condition:

		Center for Childhood Liver Disease
		Lactation Support Program


					Children's Hospital Boston is the primary pediatric teaching hospital of Harvard Medical School

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