Alpha-1-antitrypsin deficiency (AATD)

Alpha-1 antitrypsin deficiency (AATD) is a genetic inherited condition. This means AATD is passed from parents to their children. Around 1 in 3000 people in the UK have AATD.  

People with AATD lack a protective chemical in the body called alpha-1-antitrypsin. 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 toxic materials like dust, fumes or chemicals also increases your risk of lung disease.

AATD can sometimes cause liver problems, skin rashes, and immune problems too.

Outlook for AATD

The outlook for people with AATD can vary. However, many people with AATD can lead a normal life expectancy. Especially if they do not smoke.

If you have a low level of alpha-1 antitrypsin in your body, the lungs aren’t as protected as they should be from infections, cigarette smoke and other toxins. This means the lungs become easily damaged. The damage to the lungs increases the risk of chronic obstructive pulmonary disease (COPD).

If you have AATD, COPD can sometimes occur at a younger age, and it may progress quicker than normal, especially if you smoke.

AATD is caused by one or more genes not working properly. Genes are instructions that tell the body what to do.

You get a copy of the alpha-1 antitrypsin (AAT) gene from each parent. It’s possible to get one damaged copy of the AAT gene, or two damaged copies. With one damaged copy of the gene, you should be able to produce enough AAT to live a healthy life, especially if you don’t smoke.  

If you have two damaged copies of the AAT gene, you may not be able to produce enough AAT, which means the lungs can become easily damaged.

AATD in the lungs

AATD doesn’t directly cause symptoms. However, it increases the risk of lung disease in adults. The first symptoms you might notice are:  

• shortness of breath 
• coughing
• wheezing 
• feeling tired
• chest infections that keep coming back.

Some people with AATD don’t get any symptoms.

AATD in the liver

Symptoms in the liver are more likely to happen in children. Adults can also develop liver disease. This is known as cirrhosis, which is scarring (fibrosis) of the liver.

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

Rare complications  

AATD can occasionally cause other rare problems. It can lead to a skin condition that forms painful red lumps which can become ulcers. This condition is called panniculitis.

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

AATD is diagnosed by a blood test. This measures the level of alpha-1 antitrypsin (AAT) in the blood.

Your doctor might decide to test for AATD if:  

• you’ve developed COPD at a young age
• you have family history of AATD 
• you have symptoms of liver disease, particularly in children born with jaundice (yellowing of the skin or whites of the eyes).

If you’re diagnosed with COPD and are under the age of 45, you should ask your doctor to test you for AATD. You should also be tested if you’re diagnosed with COPD but have never smoked or have only smoked for a few years.

Testing is important to make sure that you’re getting the correct treatment. AATD causes COPD at an earlier age than usual, so doctors may think you have asthma. A test will ensure that you’re not being treated for something that you don’t have. Asthma is common, so some people with AATD have asthma too.

Should I be tested if a family member is diagnosed?

Because AATD is an inherited condition, you’re more likely to have it if a family member has it. If a family member has been diagnosed with AATD, particularly a parent, brother, or sister, you should get tested. 

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

Treating lung conditions

• treatment for COPD or other lung conditions – this is generally the same as for people who do not have AATD
• antibiotics for chest infections
• a lung transplant if it causes very severe lung disease.  

Augmentation therapy

AAT augmentation therapy is a treatment where alpha-1-antitrypsin (AAT) is given into your veins to increase the levels in your body. It aims to slow the progression of COPD caused by AATD. Although it’s available in some other countries, it’s not currently approved in the UK.

Augmentation therapy for AATD is currently only available through clinical trials. Speak to your healthcare professional if you’d like to get involved in clinical trials. Some studies suggest that augmentation therapy is helpful in AATD.

Research is also looking at drugs that have the same function as alpha-1 antitrypsin (AAT) and ways to correct the gene that causes AATD.  

Treating other conditions

Some people with AATD can get liver disease. Find out more about how this is treated. In rare cases, people with AATD can get panniculitis. Find out more about how this is treated.

If you have AATD, there are a number of things you can do to stay healthy.

Quit smoking

If you smoke, it’s important to quit. This slows down the development of COPD and improves your symptoms. Stopping smoking is both prevention and treatment. Ask your GP or pharmacist for help to quit smoking. You can also read our advice about how to quit.

Avoid toxic materials

If you’re exposed to toxic materials like dust, fumes and chemicals, for example at work, this might cause COPD to develop faster.

The Health and Safety Executive (HSE) has more advice on preventing work-related lung disease.

Avoid chest infections and colds

If you have AATD, chest infections can cause your lungs to become damaged more quickly. If you have a cough that produces phlegm (sputum), this could be a sign of a chest infection. You should see your doctor as soon as possible.

You may need a course of steroids and, if your phlegm is green or yellow, you may also be given a course of antibiotics. If you can, stay away from friends or family when they have chest infections or colds.

Get vaccinated

Get vaccinated to help you avoid chest infections:

• Get a flu vaccine every year 
• Get the coronavirus vaccine and booster vaccines. 
• Get the pneumonia vaccine.

Lead a healthy lifestyle

Eating well will give you energy and help your immune system to fight chest infections. Keeping active will also help you to stay healthy and manage your condition.  

Drink less alcohol

You don’t have to avoid alcohol completely, but you should follow the NHS safe drinking guidance. This means drinking less than 14 units spread throughout the week.  

If AATD affects your liver, you might have blood tests and scans to monitor your liver.

We have more information on lung conditions caused by alpha-1-antitrypsin deficiency. Read about COPD and bronchiectasis. We also have advice on coping with breathlessness.

You can find support from these groups for people with alpha-1-antitrypsin deficiency, their families, and carers:

• Asthma + Lung UK support groups
• www.alpha1.org.uk
• Genetic Alliance UK