Alpha-1-antitrypsin deficiency

What health problems can alpha-1-antitrypsin deficiency cause?

In this section, we cover the different health problems that alpha-1-antitrypsin deficiency can cause. Alpha-1-antitrypsin deficiency (AATD) doesn’t directly cause symptoms. Some people with AATD experience no symptoms at all. But in some people it can lead to the development of lung conditions and liver disease.

On this page:

Lung conditions that can be caused by AATD

The main lung problem caused by AATD is chronic obstructive pulmonary disease (COPD). COPD is caused by lung damage as a result of breathing in smoke and other toxic materials.

The symptoms include:

  • breathlessness during exercise or physical activity
  • a cough that lasts a long time
  • production of phlegm
  • wheezing
  • repeated chest infections

COPD describes a group of lung conditions, including emphysema and bronchitis. If you have AATD, the COPD you’re more likely to have will be emphysema. This is because emphysema is when the small air sacs in your lungs are damaged. There may also be damage and widening of the airways, called bronchiectasis.

If you have AATD, your lungs are much more likely to be damaged from breathing in smoke. So, it’s common for smokers with AATD to get COPD at a much younger age than other people with COPD.

Not everyone with AATD will get COPD. Only people with the lowest levels of alpha-1-antitrypsin in their blood are likely to develop the condition.

Read more about COPD and bronchiectasis.


Liver disease caused by AATD

Children who have AATD may have problems with their liver in early life. This is usually temporary and most have normal liver function by late adolescence. Serious problems are rare. Of infants who have AATD, it’s estimated that between 4-10% could have problems with their liver. In new-born babies, AATD can be associated with a yellowing of the skin and eyes, called jaundice. This is usually managed safely without long-term consequences.

In some people with AATD, abnormal alpha-1-antitrypsin proteins collect in the liver. This can lead to liver disease in older people, usually those who are over the age of 50, and may lead to liver failure and the need for transplantation. However, this is rare.

The Children’s Liver Disease Foundation has more information on liver disease caused by alpha-1-antitrypsin deficiency.


Rarer problems that can be caused by AATD

AATD can occasionally cause other problems. It can lead to a skin condition in the form of painful red lumps which sometimes become ulcers. This condition is called panniculitis.

In rare cases, people can get inflammation in their blood vessels affecting their kidneys, called vasculitis.

Next: Diagnosing alpha-1-antitrypsin deficiency >

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Last medically reviewed: August 2020. Due for review: August 2023

This information uses the best available medical evidence and was produced with the support of people living with lung conditions. Find out how we produce our information. If you’d like to see our references get in touch.