Some people don’t have enough AAT, which is called alpha-1 antitrypsin deficiency (AATD). When this happens, the lungs aren’t protected as well, which can lead to diseases like chronic obstructive pulmonary disease (COPD). In rarer cases, it can also affect your liver or skin.
Causes
AATD is genetic, meaning it is inherited from one or both parents. People who get the AATD gene from both parents are much more likely to develop lung problems like COPD. People who get the AATD gene from only one parent might develop lung problems, especially if their lungs are damaged.
Smoking is the biggest risk for people with AATD to develop COPD. Being around passive or second-hand smoke, working in a dusty place, having asthma, or getting repeated lung infections can also increase the risk.
Symptoms
COPD caused by AATD might develop at a younger age and progress faster than usual.
Common symptoms of COPD caused by AATD include:
- TFeeling short of breath (breathlessness)
- A cough that won’t go away
- More phlegm or mucus
- Feeling tired or having low energy
- Finding it harder to exercise
- Getting chest infections more often, or taking longer to get over a cold or chest infection.
The symptoms of COPD caused by AATD are also common in COPD from other causes. However, COPD caused by AATD might develop at a younger age and progress faster than usual.
Getting a diagnosis
AATD is found with a simple blood test that measures the amount of AAT in your blood. Before the blood test, your doctor will also check you over and ask about your family’s health history.
An estimated 30,000 people in Australia and New Zealand have AATD, but less than 10% have been diagnosed. This is because doctors will usually only recommend the blood test to patients with signs of AATD or a family history of AATD, which can delay diagnosis. It’s a good idea to talk to your doctor about getting tested if your parents or close family members have AATD or you develop COPD under the age of 40.
Even without a cure, early diagnosis for AATD and COPD caused by AATD is important. Diagnosing AATD as early as possible gives you the most time to make healthy lifestyle choices to protect your lung health, which can help prevent further lung damage, improve how you feel, and slow diseases like COPD.
Treatment and self-management
Augmentation therapy is the only specific treatment for AATD. It’s approved in Australia, but Medicare doesn’t cover the cost. This treatment involves getting AAT concentrate through a drip to correct low levels in your blood and lungs. We’re still learning how much it helps with symptoms and breathing results.
People with COPD caused by AATD should have similar treatment and management strategies mentioned at [links to relevant COPD patient pages]. Your doctor might prescribe inhalers for your symptoms, and to lower the risk of COPD flare-ups and prevent more damage to the lungs.
For people with AATD, it is even more important to protect your lungs with self-management. If you do smoke and have AATD-related COPD, [link] quitting is the most important thing [link: to quitting and smoking pages] you can do to improve your health and lung function. Keeping your vaccinations up to date, staying active, eating well, and having an up-to-date COPD Action Plan are also important to stay well.
Talk with your respiratory specialist about the best options for you.
Support
We’re here to help
You can chat with our friendly team about lung disease or lung cancer. We can give you helpful guidance, information, and support. We can also connect you to other useful services. It’s free and your conversations are confidential. You can reach us on weekdays from 8 am to 4:30 pm (AEST). Call 1800 654 301 or email enquiries@lungfoundation.com.au
Webinars
Want to learn more about living with a lung disease? Join or watch our educational webinars! We cover topics like managing symptoms, new research, and treatment options. Our webinars are led by experienced health professionals.
Pulmonary rehabilitation
Pulmonary rehabilitation is an exercise and education program. Specially trained health professionals teach you how to manage feeling short of breath and how to stay well and out of hospital.
Lungs in Action
People who exercise regularly are more likely to keep their ability to exercise, which helps with everyday activities. You can join Lungs in Action exercise classes in your community in different places across Australia.
Peer support
Talking with someone who really understands what you’re going through can make a huge difference. Lung Foundation Australia has programs and groups where you can connect with others who have similar experiences.
Sources
- Dummer, Dobler, Holmes et al. “Diagnosis and treatment of lung disease associated with alpha one-antitrypsin deficiency: A position statement from the Thoracic Society of Australia and New Zealand.” Respirology. 2020.
Was this page helpful?
Good job! Please give your positive feedback
How could we improve this post? Please Help us.
