Alagille syndrome

Symptoms

What are the main symptoms of Alagille syndrome?

The main symptoms of Alagille syndrome affect the liver, heart, eyes, face, and skeleton (bones). Liver damage is very common in Alagille syndrome. This damage happens because the bile ducts, the tubes that carry bile from the liver to the gall bladder and the small intestine, do not form properly. Bile helps us digest fats. The bile ducts might be formed differently or there might not be enough of them. This causes bile to back up in the liver and can damage it. Someone with liver damage can have yellow skin and eyes (known as jaundice) and itchy skin.

People with Alagille syndrome can also have heart problems. The most common heart problem is a difference in the blood flow from the heart to the lungs. It is also common to have a combination of heart problems known as "tetralogy of Fallot". There are certain facial features that are common in people with Alagille syndrome, like deep-set eyes, a small pointed chin, and a broad forehead. They might also have differences in the way that their eyes developed, but these don't usually affect their vision. Finally, many people with Alagille syndrome have butterfly-shaped vertebrae, which are the bones in the spinal column.

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What health problems should I look for in Alagille syndrome?

Any other diseases that look a lot like Alagille syndrome?

Is there one or two characteristic "odd" or "unusual" symptom or clinical feature of Alagille syndrome?

What is the penetrance of Alagille syndrome?

When do the symptoms of Alagille syndrome show up?

What other symptoms can occur in Alagille syndrome?

Do people with Alagille syndrome due to JAG1 mutations have different symptoms than people with NOTCH2 mutations?

Do most people with Alagille syndrome have the same symptoms?

What health problems should I look for in Alagille syndrome?

The main health problems in Alagille syndrome are liver and heart problems. People with Alagille syndrome can have severe liver disease due to bile backing up into the liver, causing it to scar and not work as well. You should be watching out for yellowing of the skin and eyes and itchy skin because these are symptoms of liver damage. People with Alagille syndrome can also be born with heart problems, especially problems in the vessels that carry blood from the heart to the lungs and differences in the structure of the heart. While these are usually found shortly after birth, mild heart problems might not appear until later in life. You should look out for shortness of breath, chest pain, fainting, and fast or slow heart beats.

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Any other diseases that look a lot like Alagille syndrome?

Although there are not other conditions that share all of the same health issues as seen in Alagille diseases, there can be overlap of some of the symptoms seen in Alagille. One of the most common symptoms of Alagille syndrome is neonatal cholestasis (where bile backs up into the liver). This can be found unrelated to Alagille as an isolated finding or as a part of another genetic condition. There are also many possible causes of bile duct paucity (too few tubes to carry bile out of the liver). Some of these are also genetic, like Down syndrome, cystic fibrosis, Lysosomal acid lipase deficiency, and metabolic disorders. Your doctor can look for other symptoms to help determine if it is Alagille syndrome or something else.

The eye symptoms of Alagille syndrome are also seen in many other conditions. The most common eye symptom of Alagille syndrome, called posterior embryotoxon (which is a difference in the structure of the eye present at birth), can be seen in many conditions such as Riger syndrome and Bannayan-Riley-Ruvalcaba syndrome (part of the PTEN hamartoma tumor syndrome). It is also seen in 8-15% of the general population.

The most common heart symptom, differences in the pulmonic vascular system (the blood vessels between the heart and lungs), can also be seen in Noonan syndrome, Watson syndrome, LEOPARD syndrome, Down syndrome, and Williams syndrome.

Tetralogy of Fallot, another heart problem, is frequently seen in 22q11.2 deletion syndrome. People with 22q11.2 deletion syndrome can also have butterfly vertebrae and slow growth, 2 other features of Alagille syndrome, but don't have liver problems.

References
Is there one or two characteristic "odd" or "unusual" symptom or clinical feature of Alagille syndrome?

The facial features of people with Alagille syndrome are highly characteristic. Doctors trained to see these differences can frequently be concerned about Alagille syndrome based on a patient's facial features and can confirm their idea by asking other medical questions. 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. If these features are seen in combination with liver disease or heart problems, Alagille syndrome would be highly suspected.

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What is the penetrance of Alagille syndrome?

"Penetrance" refers to how often people with a gene change/mutation have the disorder associated with it. "Complete penetrance" means that all people with gene changes/mutations have the disorder. Alagille syndrome does not have complete penetrance. Currently, the penetrance of JAG1 mutations appears to be about 96%. This means that 96% of people with JAG1 mutations will have symptoms of Alagille syndrome. In other words, 4% of people with JAG1 mutations will have no symptoms of Alagille syndrome. NOTCH2 variants appear to have complete penetrance.

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When do the symptoms of Alagille syndrome show up?

Usually, people with Alagille syndrome start having symptoms as babies or in early childhood. However, sometimes people have very mild symptoms of Alagille syndrome and they might not know they have it until much later in life.

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What other symptoms can occur in Alagille syndrome?

While the liver, heart, eyes, face, and skeleton are most commonly affected by Alagille syndrome, there are some other symptoms that can be seen. People with Alagille syndrome can have problems with their kidneys and pancreas. They can also be shorter and might go through puberty later than other people their age. They may also have an increased risk of having developmental delays and an increased risk of having a stroke.

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Do people with Alagille syndrome due to JAG1 mutations have different symptoms than people with NOTCH2 mutations?

Currently, it appears that there is no difference in symptoms of people with JAG1 mutations compared to NOTCH2 mutations. However, the number of people reported with Alagille syndrome due to NOTCH2 mutations is very small, so it is hard to determine if there is a difference between NOTCH2 and JAG1 mutations in Alagille syndrome.

References
Do most people with Alagille syndrome have the same symptoms?

Alagille syndrome is known to have variable expressivity. "Variable expressivity" means that the symptoms of the condition can be very different from one person to the next. They can even be very different in members of the same family who have the same gene change causing Alagille syndrome. For example, some people with Alagille syndrome have severe liver disease and require a liver transplant. Others have no liver problems, and might just have the characteristic facial features.

References

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