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Home Information Medical stuff Information on liver diseases Alagille Syndrome

Alagille Syndrome

What is Alagille syndrome?

Alagille syndrome is the name given to a particular type of liver condition called biliary hypoplasia in association with at least two other signs in other parts of the body.

It affects approximately one in every 100,000 live births and occurs equally between boys and girls. It is also sometimes called arterio-hepatic dysplasia or syndromic biliary hypoplasia.

The number of features and their severity varies and many people reach adulthood with mild forms of the condition, are completely well and unaware that they have Alagille syndrome. However, some babies can be quite unwell and be diagnosed when very young.

What causes Alagille syndrome?Oliver's Alagille story

The cause is not fully understood, but it is at least partly caused by genetic changes. Many people with the syndrome have a mutation or change in one particular gene but not everyone with this mutation has the syndrome. Research continues to try to find all the answers.

Features associated with Alagille syndrome may include:

  • Poor bile flow, causing some degree of liver dysfunction and sometimes jaundice
  • Typical facial features such as prominent forehead, deep-set eyes and small chin
  • Cardiovascular (heart or blood vessel) abnormalities
  • Eye abnormalities – these do not affect vision but provide a clue to diagnosis
  • Abnormal shape to some spinal bones – only visible on x-ray and does not cause problems.

What are the signs and symptoms of Alagille syndrome?

The abnormality of the bile ducts causes chronic cholestasis, which means poor bile flow from the liver into the bowel. The effects can vary considerably from mile to severe symptoms of the following:

  • Jaundice
  • Pale stools
  • Malabsorption (poor absorption of nutrients and vitamins from food)
  • Pruritus (itching)
  • Xanthelasma/Xanthomata (high levels of cholesterol in the blood/deposits in the skin)
  • Nose bleeds/bleeding gums

 

And, less commonly:

  • Hepatomegaly (enlarged liver)
  • Splenomegaly (enlarged spleen)

How is Alagille syndrome diagnosed?

Jaundice, a yellow colouring of the whites of the eyes and often the skin, is usually the first sign of Alagille syndrome. This mostly occurs before six months of age but is sometimes not noticed up to the age of three years.

Any one or a combination of the following investigations may be required:

  • Physical examination
  • Heart tests
  • x-ray
  • eye examination
  • blood tests
  • liver biopsy

 

Treatment options for Alagille syndrome

There is no cure for Alagille syndrome, but there are treatments that aim to improve the quality of life, including:

  • Vitamins – supplements of vitamins A, D, E, and K may be given.
  • Medication - may be given to reduce itching and increase bile flow.
  • Diet – Good bile flow is needed to break down fat in milk and food therefore children with Alagille syndrome may not gain weight as they should. Your dietitian will advise on any necessary dietary changes.
  • Liver transplant – only considered for a small group of patients who have severe liver disease causing cirrhosis or persistent symptoms which cannot be controlled in other ways.
  • Heart problems – around 90% of people with Alagille syndrome have associated heart features, which will be monitored and appropriate treatment given.

 

Want to know more about Alagille syndrome?

Download CLDF's leaflet on Alagille syndrome.

Read stories from those affected by Alagille syndrome by clicking here.



 

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