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Alagille Syndrome

  • Alagille syndrome is a genetic disorder of your child’s 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 scarring in the liver.

    • It’s distinguishable from other liver diseases because it usually affects other major systems in the body, including the cardiovascular system, the bones of the spine, eyes and kidneys.

    • In addition, children with Alagille syndrome tend to have unique facial characteristics, with a pointy chin, broad brow and widely spaced eyes.

    Hope and compassionate care

    Hearing that your child has Alagille syndrome can be scary. The physicians at Boston Children’s Hospital will work with you to keep your child as healthy as possible. Sometimes it can be helpful to talk to other parents who have children with the same condition. The Alagille Syndrome Alliance can be an important resource for parents of children with this condition.

    Contact Us

    Boston Children's Hospital
    300 Longwood Avenue
    Fegan 5
    Boston MA 02115

     617-355-5837
     fax: 617-730-0716


  • How common is Alagille syndrome?

    Alagille syndrome affects about one in 100,000 children.

    What causes Alagille syndrome?

    It is often a hereditary disease, and most patients have a defect in a certain gene. If one parent carries the mutated gene, there’s a 50 percent chance that each child will inherit the disease.

    Occasionally, neither parent has the syndrome but a new defect 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.

    To diagnose Alagille syndrome, your child’s physician will do a physical examination and some combination of the following tests:

    • Eye exam - to look for irregularities
    • Spine x-ray - to look for the butterfly-shaped bones
    • Chest exam - to check for a heart murmur
    • Liver biopsy - to examine a sample of liver tissue under a microscope
  • What's the treatment for Alagille syndrome?

    There are two primary goals of treatment:

    • to increase the flow of bile from the liver
    • to promote the natural growth of your child

    Medications

    • Your child may be 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 your child digest types of dietary fat that can be difficult for the body to absorb due to reduced bile flow.

      • Children may have difficulty getting enough vitamins, specifically vitamins A, D, E and K, due to problems with digesting dietary fat.

    Surgery

    Surgery is generally not recommended to treat liver disease in Alagille syndrome, although a surgical biopsy may be necessary to accurately diagnose the condition during your child's 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.

  • There is no cure for Alagille syndrome, but there are treatments to manage the disease. In rare cases, children may need a liver transplant. However, researchers at Children’s are exploring other surgical options that may help relieve symptoms. In some cases, itching and xanthomas (cholesterol deposits) can be so severe that a child can’t maintain a normal quality of life. Surgeons at Children’s have performed a procedure called “ileal exclusion” or “internal biliary bypass” that may alleviate some of these symptoms. The word “ileal” refers to “ileum,” which is the last segment of the small intestine.

    During this procedure:

    • The end of the small intestine is bypassed, preventing the re-absorption of some bile acids from the intestine.

    • Since bile acids are believed to be a primary contributor to itching, reduction in bile acid absorption can lead to improvements in symptoms.

    • In addition, bile acids are the building blocks for cholesterol, so this procedure may also help reduce the severity of symptoms over time.

    This procedure is reversible and additional procedures may still be necessary, including external biliary bypass or a liver transplant. Any child with Alagille syndrome-related itching is a candidate for ileal exclusion.

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