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Alagille Syndrome

Alagille syndrome is a genetic (inherited) disorder that can affect the liver, heart and other parts of the body. This condition can be referred to by many other names, including Alagille-Watson syndrome, arteriohepatic dysplasia (AHD), cardiovertebral syndrome or syndromic bile duct paucity.

Liver damage is one of the most common features in Alagille due to abnormalities in the bile ducts. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number. Bile may build-up in the liver and cause scarring that prevents the liver from working properly to eliminate wastes from the bloodstream.

This condition can also affect other major organs in the body, including the heart, eyes, kidneys and spine. Children with Alagille syndrome tend to have unique facial characteristics: a pointy chin, broad brow and widely spaced eyes. The estimated prevalence of Alagille syndrome varies from one in 30,000 - 70,000 newborns, making it a relatively rare condition. It affects boys and girls and people of all races at equal rates.

The goal of SSM Health Cardinal Glennon Children’s Hospital team is to provide families with the knowledge, support and options to make the best decisions for their loved ones. If your child has been diagnosed with Alagille syndrome, call us today at 314-268-4010 to schedule an appointment to learn how we can help.

Signs & Symptoms of Pediatric Alagille Syndrome

The effects of Alagille syndrome can vary greatly from child to child, with symptoms ranging from severe to so mild they go unnoticed. Some affected people may only experience isolated signs of the disorder.

Liver problems are usually the first sign of this condition, and newborns with Alagille syndrome may have jaundice (a yellowish tint of the eyes and skin) and poor growth during their first few months.

In children more than 3 months old, symptoms may include:

  • Persistent jaundice
  • Severe itchiness
  • Fatty deposits in the skin (xanthomas)
  • Dark urine or grey or white stools
  • Stunted growth or poor weight gain
  • Heart murmur
  • "Butterfly" shaped bones in the spinal column
  • Specific facial features (pointy chin, broad brow and widely spaced eyes)

Alagille Syndrome Diagnosis

Alagille syndrome is present from birth, and usually diagnosed during infancy or early childhood as symptoms become more prevalent.

Several different tests and physical exams may be used to diagnose this condition, including blood tests, urinalysis, eye exams, x-ray of the spine, heart exams, liver biopsy or genetic testing. Even with extensive testing, Alagille syndrome can be difficult to diagnose.

Treatment Options for Alagille Syndrome

There is no cure for this condition, but there are various treatment options available, and the prognosis for most children is favorable. With proper care, many people with Alagille syndrome enjoy healthy, normal lives!

Early diagnosis and intervention are important in ensuring children with Alagille syndrome reach their potential. Treatment options include special diets and nutritional supplementation, so the child can absorb vitamins A, D, E and K properly. Various medications can be used to manage symptoms or help increase the flow of bile from the liver or lower cholesterol levels in the blood.

Liver Transplant

A child’s long-term outlook depends on how severely they are affected by Alagille syndrome. Some children with Alagille syndrome eventually develop advanced liver disease and need a liver transplant.

We recognize that the diagnosis of Alagille syndrome affects a family greatly, and our hope is to be able to provide families with the resources they need during a difficult and overwhelming time. SLUCare Physician Group surgeons at Cardinal Glennon Children’s Hospital are here to support you every step of the way and can help you navigate your child's care. Call us today at 314-268-4010 to schedule an appointment or to request a second opinion.

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