Alagille Syndrome

Home > Your Liver > Liver Diseases > Alagille Syndrome

Key points

Alagille Syndrome is a genetic disorder that babies are born with
People with Alagille Syndrome have fewer bile ducts than normal, so bile can’t flow properly
It causes liver problems and can affect the skin, heart, bones, spine and kidneys. These problems can be quite mild or serious and even life-threatening
Alagille Syndrome can be diagnosed at any age
Children with Alagille Syndrome may need a special diet and close medical monitoring to prevent complications
Some people with Alagille Syndrome go on to need a liver transplant.

What is Alagille Syndrome?

Alagille Syndrome is condition that affects the liver and many other parts of the body. It’s very rare. Only about 1 in 30,000 to 45,000 people have this condition.

Babies born with Alagille Syndrome don’t have enough bile ducts to drain bile from the liver. Bile builds up in the liver and causes liver damage. Liver problems are usually the first sign of Alagille Syndrome and often develop in the first 3 months of a baby’s life. The baby may develop jaundice (yellow skin and eyes) due to a build up of bilirubin in the blood.

Diagram of the liver showing bile ducts and pancreas

Alagille Syndrome can also affect other parts of the body. Someone with Alagille Syndrome might have:

Enlarged spleen – because the liver isn’t working well so blood builds up in the spleen
A heart murmur – because the blood vessels that take blood from the heart to the lungs are too narrow
Abnormal blood vessels in the head or neck
Kidney disease, because the kidneys are smaller than usual or they have cysts
Changes in the bones of the spine.

Alagille Syndrome can be so mild in some people that they don’t know they have it. In others it can be much more serious and even life-threatening. Complications of Alagille Syndrome may include:

Heart problems
Kidney failure
Pancreas problems
Bleeding into the brain or a stroke.

The liver problems stop the body from absorbing vitamins properly. This can cause other issues such as:

Bone fractures or rickets
Poor weight gain, delayed mental or physical growth, failure to thrive
Vision problems
Blood clotting problems.

Six of every 10 children diagnosed with Alagille Syndrome will develop liver failure by the age of 18. But in some babies, the jaundice clears up (levels of bilirubin in the blood drop). If the bilirubin in the blood is less than 5mg/dL between 6 and 12 months of age, then the baby will have an 8 in 10 chance of reaching adulthood without needing a liver transplant.

People with mild Alagille Syndrome often lead normal lives and only become aware they have Alagille’s Syndrome when another family member with more serious medical problems is diagnosed. We don’t know why members of the same family can be so differently affected by Alagille’s Syndrome.

What are the symptoms of Alagille Syndrome?

Symptoms usually start before a baby turns 1. Alagille Syndrome can cause blocked flow of bile from the liver (called cholestasis) followed by liver damage.

Symptoms of Alagille Syndrome in babies and children include:

Yellow skin and whites of the eyes (jaundice). This is often the first sign. Many babies have jaundice, but if the baby has Alagille Syndrome it won’t go away
Pale poo and/or dark urine
Enlarged liver
Very itchy skin (called pruritus).

Later, children with Alagille Syndrome may have stunted growth and development.

Other signs a baby or child might have Alagille Syndrome are:

Hard bumps just under the surface of the skin (called xanthomas)
A certain appearance (in slightly older children) – deep-set eyes, a wide forehead, straight nose and small chin
A white ring in the eye (called a posterior embryotoxon) that can be seen in a special eye exam)
Bone or spine abnormalities
Unusual heart/blood vessels and/or a heart murmur.

How is Alagille Syndrome diagnosed?

It can be quite difficult to diagnose Alagille Syndrome because the symptoms can often mean something else.

If you are worried your child has Alagille Syndrome, talk to your doctor. They will examine your child and may send them off for other tests including:

Ultrasound of the belly to check the liver, spleen and kidneys
Blood tests to check the liver and kidneys and look at the nutrients in the blood
A liver biopsy (where a small sample of liver is removed to study in the laboratory) to see whether there are too few bile ducts
X-rays of the spine
Eye tests
Testing of the heart and blood vessels ( chest Xray, echocardiogram)
Blood test to confirm the abnormal gene

Why did I get Alagille Syndrome?

Alagille Syndrome happens because a baby is born with a faulty gene. Most cases are caused by changes to the JAG1 gene. A few cases are caused by changes to the NOTCH2 gene.

Sometimes these genes are inherited from one parent. If one parent has Alagille Syndrome, their child has a 50:50 chance of being born with it.

But in about half of Alagille Syndrome cases, neither parent has the condition. It just happens.

If someone is diagnosed with Alagille Syndrome, the whole family might be offered genetic testing. This will show whether anyone else in the family has the affected genes. It can show whether other family members might need treatment, and can help parents plan future pregnancies.

How is Alagille Syndrome treated?

There is no cure for Alagille Syndrome. Someone with Alagille Syndrome will probably see a team of specialists to treat problems with their liver, heart, kidneys, bones and eyes.

There are different treatments depending on what problems the person has.

To improve the flow of bile from the liver: Medicine or surgery.
To keep the child growing and developing properly: Special food or vitamin supplements (either by mouth or injection).
To stop the itching: Several new medicines have recently become available to relieve itching.

If Alagille Syndrome causes liver failure, your child will need a liver transplant.

Treatments may need to change over time, so it’s important to stay in touch with the medical team.

Living with Alagille Syndrome

Someone with Alagille Syndrome may need a high-calorie diet and extra calcium and vitamins A, D, E, and K. Some children with Alagille Syndrome may need to be fed via a tube passed through the nose to the stomach.

Usually, children with Alagille Syndrome can do normal physical activity, but if they have an enlarged spleen, they may be asked to avoid contact sports.