Alagille syndrome is a rare genetic disease that can affect many organs in the body, including the liver, heart, eyes, kidneys and spine. The symptoms of Alagille syndrome can vary greatly, even between people in the same family. Some children with the condition can have very mild symptoms, while others may have severe complications that can be life-threatening.

Some of the main health issues children may have include:

  • Too few bile ducts in their liver. This can reduce bile flow and make it hard for the body to properly absorb fat and vitamins, causing problems with growth.
  • Heart problems that can range from mild conditions, such as heart murmur, to complex structural conditions, such as tetralogy of Fallot.
  • Problems with the eyes, kidneys and blood vessels.

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What are the signs and symptoms of Alagille syndrome?

The symptoms of Alagille syndrome can vary greatly from one child to another. Some of the most common symptoms in children may include:

  • Persistent jaundice (yellowing of the skin and eyes)
  • Severe itchiness
  • Fatty deposits in the skin (xanthomas)
  • Dark urine or gray or white stool
  • Delayed growth or poor weight gain
  • Heart murmur
  • Unique facial characteristics (pointy chin, broad forehead and widely spaced eyes that are deeply set)
  • Spinal growth changes
  • Enlarged spleen

Over time, children with Alagille syndrome may develop one or more of the following problems:

  • Malabsorption issues
  • Poor growth or delayed puberty
  • Liver failure
  • Portal hypertension
  • Heart and blood vessel problems
  • Kidney disease

What causes Alagille syndrome?

Alagille syndrome is caused by a gene mutation that passes from parent to child. About 30 to 50 percent of children with Alagille syndrome inherit it from their parents. In other children, the mutation occurs through a new gene change. Alagille syndrome is a condition that a child is born with, but it may not be diagnosed until later in life.

If one parent has the gene mutation for Alagille syndrome, each of their children has a 50 percent chance of inheriting the mutation. Children born with the gene mutation are considered to have Alagille syndrome, and even if they don’t have symptoms, they have a 50 percent chance of passing the mutation onto their children.

How is Alagille syndrome treated?

There is currently no cure for Alagille syndrome. The goal of treatment is to reduce your child’s symptoms and prevent complications. Your child’s treatment may involve surgical or non-surgical options.

  • Medicines may be prescribed to:
    • improve bile flow
    • relieve itching
    • lower cholesterol
       
  • Vitamin supplementation may be needed for fat-soluble vitamin deficiency:
    • Vitamins A, D, E and K
    • Calcium
    • Zinc
       
  • Nutritional supplements and a high-calorie diet
    • Specialized baby formula rich in a type of fat that is easily digestible may be needed
    • A high-calorie diet may be recommended to prevent malnutrition and growth failure

If medicine or dietary changes do not work, some children may need a surgery called partial biliary diversion. This surgery diverts bile acids between the liver and gastrointestinal tract and may help improve symptoms such as itching.

In severe cases, children with liver disease may need a liver transplant.