What is AAT?

Alpha-1 antitrypsin deficiency (AAT or AATD) is a genetic disorder that can lead to lung and liver problems due to the body not producing enough...
Jade Brown
By Jade Brown

Alpha-1 antitrypsin deficiency (AAT or AATD) is a genetic disorder that can lead to lung and liver problems due to the body not producing enough AAT protein.

How common is Alpha-1 antitrypsin deficiency?

AATD is a genetic inherited condition, meaning AATD is passed from parents to their children. Only around 1 in 3000 people in the UK have it.

Having low levels of alpha-1-antitrypsin in the body increases the risk of lung diseases like chronic obstructive pulmonary disease (COPD) and in some cases, bronchiectasis. Having AATD and breathing in cigarette smoke or other fumes can also increase your risk of lung disease.

AATD can sometimes cause liver problems, skin rashes, and immune problems too. However, people with the condition can lead a normal life, especially if they don’t smoke.

What causes AAT?

Alpha-1-antitrypsin deficiency is caused by one or more genes not working properly.

You get the alpha-1 antitrypsin (AAT) gene from each parent. If you have one damaged copy of the gene, you should be able to produce enough AAT to live a healthy life.

However, if you have two damaged copies of the AAT gene, you may not be able to produce enough AAT, meaning the lungs can get easily damaged.

Symptoms and treatment

Not everyone who suffers with Alpha-1-antitrypsin deficiency will experience symptoms. However some people will suffer from shortness of breath, coughing, wheezing, tiredness and regular chest infections.

There is no current cure for AATD. Treatment focuses on slowing the progression of lung disease or treating the lung condition specifically.

Those suffering with AATD are encouraged to drink less alcohol and eat well. If you are diagnosed with the condition and you smoke, the most important thing you can do to stop lung damage is to stop smoking.

For more information you can visit Asthma and Lung UK.