Alagille Syndrome

Alagille syndrome is a condition in which the liver has too few bile ducts. Children with this syndrome will typically experience a progressive loss of the bile ducts inside the liver and a narrowing of the bile ducts outside the liver within the first year of life.

This leads to a buildup of bile in the liver, since it cannot flow from the liver properly. Bile is a fluid that aids in digestion and is usually stored in the gallbladder, but when bile builds up in the liver, it causes liver damage. Alagille syndrome affects other organs, including the heart, eyes, spine, kidneys and other parts of the body.

Alagille syndrome is typically genetic, meaning it is passed from parent to child. A parent with the syndrome has a 50 percent chance of passing the abnormal gene that causes the condition to each child. Sometimes a child can have a newly developed gene abnormality, meaning they did not inherit the condition from a parent.

A child who is born with Alagille syndrome will experience jaundice (yellowing of the skin and whites of the eyes), pale, loose stool and failure to thrive. Jaundice can cause severe itching but should improve in the first few years of life as bile flow improves. Children with this syndrome are often shorter than their peers, even when they receive adequate nutrition. Other common symptoms that lead to a diagnosis of Alagille syndrome may include:

Pulmonic stenosis. Pulmonic stenosis is a narrowing of the pulmonary artery (the vessel that leads from the heart to the lungs) and causes a heart murmur.
Characteristic facial appearance. Children with Alagille syndrome typically have deep, wide-set eyes, a round forehead and a pointed chin, though this may not be apparent until later in life.
Posterior embryotoxon. Posterior embryotoxon is the medical term used to describe a thicker than normal ring around the eye's cornea. This symptom does not cause vision problems.
Kidney problems. Children with Alagille syndrome may have kidney cysts or a mild form of a kidney condition called kidney tubular acidosis. Kidney tubular acidosis happens when the body fails to eliminate acid adequately.
Skeletal malformation. The spinal bones of children with Alagille syndrome may be shaped as the wings of a butterfly. This “butterfly vertebrae" is usually only observed through X-ray and does not typically create problems with spinal cord function.
Pancreatic insufficiency. Pancreatic insufficiency affects about one-third of children with Alagille syndrome. It happens when the pancreas does not make enough enzymes for food digestion. This can lead to diarrhea.
Cholesterol deposits. This symptom appears on the skin and is a result of the poor flow of bile salts, which in turn affects the body’s metabolism of cholesterol. It appears as bumpy lesions of various sizes.

Diagnosis of Alagille Syndrome

If your child has symptoms of Alagille syndrome, a pediatric gastroenterologist will make a diagnosis through a physical examination and tests such as:

Blood tests. A blood test will show if the parent/s and the child carries the Alagille gene. However, this test is not perfect. Additional lab tests are done to assess the general state of your child's liver and bile duct system. Depending on the results of these tests, your child's pediatric gastroenterologist may want to do a liver biopsy.
Liver biopsy. A liver biopsy is done to examine the bile ducts and the degree of scarring in the liver caused from bile buildup.

Doctors will do further blood tests on babies who have jaundice and some or all of the other common symptoms of Alagille syndrome.

Treatments

There is no cure for Alagille syndrome. However, there are treatments that improve bile flow and address specific symptoms. Treatments for this syndrome include:

Medicine. Your child's pediatric gastroenterologist can prescribe medicines to help increase bile flow. Children who experience itching as a result of long-term jaundice can be treated with medicine, as well.
Nutrition. Poor bile flow leads to poor absorption of fat, resulting in poor or slow growth. Children with Alagille syndrome have striking deficiencies in vitamins A, D, E and K and require supplementation of these vitamins, sometimes in doses that are 20 times what normal babies require. Your child's doctor will monitor levels of these vitamins carefully to avoid vitamin deficiency or overdosing. A certain type of fat called medium-chain triglycerides (MCT) is absorbed well in children with Alagille syndrome. Babies are usually prescribed a special formula that contains a high concentration of MCT. Breast-fed babies can supplement with MCT oil.
Liver transplant. About 20 percent of patients with Alagille syndrome eventually require a liver transplant, due to cirrhosis (scarring) of the liver.

Key Points to Remember

Alagille syndrome is typically genetic, meaning it is passed from parent to child.
The liver’s bile duct system does not work properly with Alagille syndrome, resulting in a buildup of bile in the liver.
Many children with Alagille syndrome have other symptoms affecting the eyes, spinal cord, heart and kidneys and may have specific facial characteristics, all of which help to diagnose the disease.
Alagille syndrome is treated with medicines and nutritional supplements.

Support Services & Resources

Visit the websites below to find support groups and services and learn more about Alagille syndrome.

Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.

Learn More About Riley Support Services

American Liver Foundation

The American Liver Foundation is dedicated to promoting Alagille syndrome education, support and research.

The Childhood Liver Disease and Education Network

This website provides in-depth information about Alagille syndrome in children.

U.S. National Library of Medicine

The U.S. National Library of Medicine provides an online reference about Alagille syndrome.

Alagille Syndrome Research

The Gastroenterology, Hepatology & Nutrition Department at Riley at IU Health participates in the Childhood Liver Disease Research Network, a multicenter research network that investigates childhood liver conditions, including Alagille syndrome. Talk to your child’s doctor if you want to know more about this research or if you have questions about your child participating in one of these studies.

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