Alpha-1 antitrypsin deficiency (AATD)
Key facts
- Alpha-1 antitrypsin deficiency (AATD) is a genetic condition.
- People with AATD are at risk of chronic (ongoing) lung and liver conditions, such as emphysema and cirrhosis.
- Treatment for AATD depends on your symptoms and condition.
- There are lifestyle measures to reduce your risk of severe lung and liver disease.
- Many people with AATD, especially non-smokers, have a normal life expectancy.
What is alpha-1 antitrypsin deficiency?
Alpha-1 antitrypsin deficiency (AATD) is an inherited genetic condition.
People with AATD have problems making a protein called alpha-1 antitrypsin (AAT). Normally, AAT is made in your liver and helps protect your lungs from damage due to infections and inhaled irritants.
Due to the problems making AAT, people with alpha-1 antitrypsin deficiency are at risk of chronic (ongoing) lung and liver conditions, such as:
What are the symptoms of alpha-1 antitrypsin deficiency?
Common symptoms of AATD are:
- a chesty or 'productive' cough
- wheezing
- feeling breathless when you do activities or exert yourself
Other symptoms can include:
- jaundice (yellow discolouration of your skin and the whites of your eyes)
- tiredness
- abdominal pain
- abdominal swelling
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What causes AATD?
AATD is a genetic condition that you can inherit from your parents. Both your parents need to pass on a gene mutation for you to have AATD.
Symptoms and problems from AATD are more likely to develop in people who smoke. Other risk factors include:
- passive smoking and vaping (breathing in second-hand smoke)
- working in a dusty environment
- repeated lung infections
When should I see my doctor?
See your doctor if you have symptoms of AATD or if you have a family history of AATD.
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How is AATD diagnosed?
Your doctor will ask about your symptoms and your family medical history. They will also do a physical examination.
Your doctor may recommend tests, such as:
- a blood test to measure the amount of AAT in your blood
- lung function tests
- a chest x-ray or chest CT scan
- liver function tests (a type of blood test)
Your doctor might recommend you see a specialist, and you might be offered genetic counselling and genetic tests.
Other tests, such as a liver ultrasound scan, may also be recommended.
If you have parents or close relatives who have been diagnosed with AATD, you might want to get tested to see whether you have the condition too.
How is AATD treated?
Currently, there is no cure for AATD. But many people with AATD, especially those who do not smoke, have a normal life expectancy.
Treatment for AATD depends on your symptoms and condition.
Medicines
Your doctor might prescribe medicines to treat lung symptoms, such as:
- antibiotics for infections
- inhaled bronchodilators (puffers to open your airways) to relieve the symptoms of COPD, especially breathlessness
- corticosteroid inhalers and medicines
AAT augmentation therapy can be used to treat emphysema symptoms related to AATD. It can also be used under other special circumstances. This medicine is given via a drip. It has been approved for use in Australia, but the cost is not covered by Medicare. Talk to your specialist about this treatment and whether it may be suitable for you.
Other treatments
It's important that any chest infections are treated as quickly as possible. If you have COPD, your doctor will recommend a pulmonary rehabilitation program.
If you have lung or liver damage that's severe, you may eventually need a lung or liver transplant.
Can AATD be prevented?
While it's not possible to prevent AATD, there are ways of preventing severe lung and liver disease caused by AATD.
Lifestyle measures
If you smoke or vape, it's very important to quit to help protect your lungs. Help is available via Quitline on 13 7848.
Avoiding air pollution and passive smoking is also important.
You will also need to avoid or limit:
- your alcohol intake
- certain medicines
- other things that can affect your liver
Your doctor can advise you on how to avoid things that may affect your liver.
Vaccinations
Your doctor may recommend regular immunisations against:
Hepatitis vaccinations may be recommended for some people.
Complications of AATD
Complications of cirrhosis can include liver failure and liver cancer.
AATD can also cause a condition called 'necrotising panniculitis'. This is where painful, hardened skin lumps develop. This complication is uncommon.
Resources and support
Visit the Alpha-1 Association of Australia for more information.
The Lung Foundation also has information on alpha-1 antitrypsin deficiency, as well as support and information for people affected by lung conditions.
You can also call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available to speak with 24 hours a day, 7 days a week.
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Last reviewed: March 2024
