What age do people get alpha-1 antitrypsin deficiency?

A1ATD is a genetic condition. So people with it are born with the genes that cause it and have those genes all their life.

But most people are only diagnosed if they start to show symptoms. Usually of either liver or lung disease.

There are 2 age groups where A1ATD is most likely to be diagnosed.

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Babies and young children

Some babies and young children will be diagnosed with A1ATD. Usually after they show signs of a liver problem in the first 2 years of life. This is usually jaundice (a yellow colour to the eyes or skin) or a swollen tummy (abdominal distension).

Some young children are not jaundiced and can be diagnosed during routine exams and  blood tests.

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Adults

People with lung disease caused by A1ATD are often diagnosed between 40 and 50 years old. Especially if they smoke.

People over the age of 50 have a higher risk of severe liver disease caused by A1ATD. This may be because it takes a long time for the liver damage to build up.

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What increases the risk of becoming unwell because of alpha-1 antitrypsin deficiency?

Genes cause A1ATD, but not everyone with the genes will get the condition. In some cases, other risk factors are needed as well.

It is not possible to predict who will become unwell and who will not. But there are some things that we know increase the risk in adults.

Smoking

Smoking damages the lungs. It also stops the AAT protein from working properly.

Smokers with A1ATD genes are more likely to get lung diseases like COPD and emphysema. They are also more likely to get these conditions at a younger age than other smokers.

Passive smoking also seems to be a problem.

Exposure to other hazardous fumes

Breathing in other hazardous fumes, for example at work, is also riskier for people with A1ATD.

Being male

Men are more likely to develop A1ATD liver disease. It is thought that this is linked to male hormones.

Other risks:

Adults are more likely to develop serious liver problems if they have A1ATD and they:

• have diabetes
• are overweight
• have another metabolic condition

You can find out more about how to reduce the risk in the Living with A1ATD section.

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Alpha-1 antitrypsin deficiency and other liver conditions

Having A1ATD can increase the risk of getting seriously ill if someone also has another liver condition.

There is evidence that having AATD increases the risk from:

• Fatty liver disease (MASLD)
• Alcohol related liver disease (ARLD)
• Cystic fibrosis related liver disease in children

There is also some evidence that A1ATD can affect long term (chronic) viral hepatitis B and C and haemochromatosis. But more research is needed to understand these links better.

In some cases, having the genes for A1ATD is only a problem when someone also has another liver condition.

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