Alagille syndrome

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Can Alagille syndrome be inherited from a parent who has the syndrome?

If a parent has Alagille syndrome, they can pass it on to their children. There is a 1 in 2, or 50%, chance of each child having Alagille syndrome. That does not mean that half of the parent's children will have Alagille syndrome, but that each child has a 50% chance of inheriting it. About 30-50% of children with Alagille syndrome have a parent with the condition. In other cases, it may be that the child affected with the condition is the first person in the family to have the gene change.

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Can a child be born with Alagille syndrome, even if neither of their parents have it?

Is Alagille syndrome fatal?

Does everyone with Alagille syndrome have liver disease?

How often do people with Alagille syndrome need a liver transplant?

How common are heart problems in people with Alagille syndrome?

Do the eye symptoms in Alagille syndrome cause vision problems or blindness?

What does it mean to say that people with Alagille syndrome have "characteristic facial features"?

How dangerous is a liver transplant for people with Alagille syndrome?

I have a child with Alagille syndrome. What are the chances that I will have another child with Alagille syndrome, as well?

Can Alagille syndrome be detected on an ultrasound?

Do people with Alagille syndrome need to be on a special diet because of their liver problems?

Why are the symptoms of Alagille syndrome so variable in different people?

Why do people with Alagille syndrome have such itchy skin?

Can a child be born with Alagille syndrome, even if neither of their parents have it?

A child can be the first person in the family to be born with Alagille syndrome. This is called "de novo", which means "new". About 50-70% of children are born with de novo Alagille syndrome. In other words, most children born with Alagille syndrome do not have parents with the condition.

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Is Alagille syndrome fatal?

The symptoms of Alagille syndrome can be very different in different people with the condition. Some people will have very mild symptoms, and may never know they have it. Others may have very severe symptoms, requiring a lot of treatment and sometimes surgery. If a person with Alagille syndrome has very severe heart or liver problems, they may need a heart or liver transplant. In people with more severe symptoms, the condition is more dangerous and can be fatal. Alagille syndrome is fatal in about 1 in 10, or 10%, of people with the condition. Death usually occurs because of stroke, heart problems, or liver problems.

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Does everyone with Alagille syndrome have liver disease?

While liver disease is one of the most common symptoms of Alagille syndrome, not everyone with the condition will have liver disease. Some people with Alagille syndrome will only have heart problems or the characteristic facial features of the condition.

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How often do people with Alagille syndrome need a liver transplant?

About 15% of people with Alagille syndrome will need a liver transplant. There is no way to predict which babies born with Alagille syndrome will need a liver transplant in the future.

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How common are heart problems in people with Alagille syndrome?

Up to 97% of people with Alagille syndrome will have some kind of heart difference. This may be as mild as a difference in the way that the heart beats that causes no problems (also known as a "benign heart murmur") or as severe as physical differences that require a heart transplant. The most common heart problem is called "pulmonic stenosis", which means that the blood vessels carrying blood from the heart to the lungs are too narrow. After that, the most common complex heart problem is called "tetralogy of Fallot". Tetralogy of Fallot is a combination of 4 specific physical differences in the heart.

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Do the eye symptoms in Alagille syndrome cause vision problems or blindness?

Typically, the differences in the eyes of people with Alagille syndrome do not cause severe vision loss or blindness. The differences in the eyes of people with Alagille syndrome are mostly differences in the way that the eye developed, but don't usually affect how well the person can see. This means that the eye differences mostly help doctors diagnose a person with Alagille syndrome and don't usually cause any problems for the person.

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What does it mean to say that people with Alagille syndrome have "characteristic facial features"?

"Characteristic facial features" means that people with Alagille syndrome share some parts of their appearance. It does not mean that there is anything wrong with their faces or that they have a deformity or problem with their faces. Typically, people with Alagille syndrome will have a large forehead, eyes that sit deeper in their heads, a pointed chin, and a bigger tip of the nose. Several of these features may be seen in the general population, but may be more common in patients with Alagille Syndrome. Since these facial features are seen in most people with Alagille syndrome, doctors often use them to diagnose someone with the condition.

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How dangerous is a liver transplant for people with Alagille syndrome?

Liver transplants are only done in patients with very severe liver problems who may not survive without a new liver. It is a major surgery. There can be complications of the surgery, some of which can be life-threatening. The 1-year survival rate after a liver transplant in patients with Alagille syndrome is about 87%. This means that 87% of patients with Alagille syndrome who had a liver transplant were alive 1 year after their transplant. This is somewhat lower than the 1-year survival rate for people who had a liver transplant but do not have Alagille syndrome, which is 96%. The difference is probably due to the fact that people with Alagille syndrome usually also have problems with their heart or kidneys, making the surgery more dangerous.

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I have a child with Alagille syndrome. What are the chances that I will have another child with Alagille syndrome, as well?

That depends on whether or not you or your partner have the same genetic change as your child with Alagille syndrome. If one of you has the same genetic change, there is a 1 in 2, or 50%, chance of each of your future children having Alagille syndrome. This does not mean that 50% of your children will have Alagille syndrome, but that each child has a 50% chance of inheriting it.

If neither of you has the same genetic change, the chance of having another child with Alagille syndrome is low, but it is not impossible. It is always possible, but highly unlikely, that the random event that caused the genetic change in your child could happen again. It is also possible that you or your partner is "mosaic" for a genetic change that cause Alagille syndrome. "Mosaic" means that some of the cells in your body have a genetic change and some don't. If someone is mosaic for a genetic change, there is a chance that they can pass this change on to their children.

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Can Alagille syndrome be detected on an ultrasound?

A fetal echocardiogram (a detailed ultrasound of the baby's heart) can sometimes pick up differences in the structure of the baby's heart. This echocardiogram can be done if you know your baby is at an increased risk of having Alagille syndrome (maybe because one of the parents has the condition or you already have a child with Alagille syndrome). It is important to remember that a normal echocardiogram does not mean the baby definitely does not have Alagille syndrome. Also, the other symptoms of Alagille syndrome (liver problems, eye problems, facial features, butterfly veterbrae) are very unlikely to be seen on an ultrasound.

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Do people with Alagille syndrome need to be on a special diet because of their liver problems?

Because of the problems with getting enough bile into the digestive system, patients with Alagille syndrome are usually unable to get enough fat and fat-soluble vitamins (vitamins A, D, E, and K). This can lead to problems with growth and development. Infants with Alagille syndrome may be put on a special formula to help them absorb more fats. Also, patients may need to take vitamin supplements to make sure they are getting enough of them. If you are concerned about your child's diet, talk to your doctor or a nutritionist.

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Why are the symptoms of Alagille syndrome so variable in different people?

We don't yet know why different people show different symptoms of Alagille syndrome, even if they have the same gene change or mutation. Likely, there are other genetic and environmental factors that cause a person to have more mild or more severe symptoms. We just don't yet know what these factors are at this time.

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Why do people with Alagille syndrome have such itchy skin?

One of the symptoms of bile buildup is itchy skin. When the bile cannot get out of your liver and into your gall bladder and intestines as well as it should, it can start to get into your skin and build up there. This can be treated with medicine to help the bile flow out of the liver or medicines that decrease itching (antihistamines). You can also use lotions to help soothe the skin.

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