What health problems can alpha-1-antitrypsin deficiency 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.
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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
- repeated chest infections
COPD describes a group of lung conditions, including emphysema and bronchitis. In AATD the COPD is more likely to be related to emphysema where the small air sacs are destroyed. 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 people with standard 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.
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 and probably only affect about 3% of infants. 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 most people remain healthy.
The Children’s Liver Disease Foundation website has more information on liver disease caused by alpha-1-antitrypsin deficiency.
AATD can occasionally cause other problems. It can lead to skin rashes 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.