What are the symptoms of alpha-1 antitrypsin deficiency in babies and children?

Symptoms of A1ATD in babies and young children are usually caused by liver problems. The symptoms can be very similar to those of other liver conditions. So, it can take a while for doctors to work out the cause.

The most common sign is prolonged jaundice. Usually in babies or children under 2.

Jaundice is a yellow colour to the eyes or skin. Lot of babies get jaundice but it goes away quickly. Prolonged jaundice is jaundice that lasts for more than 2 weeks. Or for more than 3 weeks if your baby was born prematurely before 37 weeks of pregnancy.

Prolonged jaundice does not always mean your baby has AATD. But it should always be checked by a doctor.

This is a list of the other main symptoms.  Most children with A1ATD will not have all of these.

• Not putting weight on as expected or losing weight
• Feeling very tired all the time and not wanting to be active (lethargy)
• A swollen tummy
• Repeated nose bleeds
• Swollen ankles, especially in the evenings

What to do

If your baby or child has any of these symptoms see a doctor as soon as possible.

A1ATD is rare in young children, so some GPs do not know a lot about it. If your GP is not sure what to do it might help to show them this information.

What should happen next

If your GP suspects your child might have a liver condition, they should refer them to a specialist.

Red flag emergency symptoms

If your child has blood in their poo or vomit, take them to the hospital emergency department (A and E) or call 999 right away.

This might not be caused by liver disease. But it is important to get it checked out and looked after.

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What are the symptoms of alpha-1 antitrypsin deficiency in adults?

The early signs of liver disease can be very hard to spot. Many people won’t realise they have A1ATD until they show signs of serious liver damage.

Liver symptoms of A1ATD

There are no liver symptoms that are specific for A1ATD. Many people will have no liver symptoms.

If there are symptoms, they are usually things that could be caused by a lot of different things. Including other liver conditions.

You cannot tell if you have A1ATD or not just from symptoms. Specialist tests are needed. You can find out more about these in the next section.

You can also find out more about the symptoms of liver disease here.

Lung symptoms

A1ATD can increase the risk of lung disease in adults. Symptoms of lung disease can include:

• Being out of breath
• Coughing
• Wheezing

You can find out more about A1ATD lung disease on the Asthma + Lung UK website.

Red flag emergency symptoms

If you have any of these symptoms, go to the hospital emergency department (A and E) or call 999 right away. They might not be caused by liver disease. But it is important to get checked out and looked after.

• vomiting blood
• feeling like you cannot get enough air when you breathe
• very dark black or tar-like poo
• feeling unusually confused or finding it hard to stay awake
• jaundice, (a yellow colour to your eyes or skin) if you have not had this before.

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