By Associate Professor Daniel Chambers, Thoracic and Transplant Physician, The Prince Charles Hospital, Brisbane
Alpha-1-antitrypsin deficiency is an inherited enzyme deficiency which affects approximately 1:2,500 Australians and can cause or contribute to Chronic Obstructive Pulmonary Disease (COPD), and more rarely, liver disease.
Can the deficiency be corrected?
A number of pharmaceutical companies are developing augmentation products which correct the deficiency of alpha-1-antitrypsin in the blood. Although augmentation products have been shown to increase the enzyme level in the blood, we do not know whether they actually slow the progression of COPD.
Why can’t Australians access augmentation therapy?
Although augmentation therapies can improve enzyme levels in the blood, have generally been found to be safe, and are on the Australian Register of Therapeutic Goods, this therapy is not yet subsidised on the Pharmaceutical Benefits Schedule. Lung Foundation Australia and The Thoracic Society of Australia and New Zealand’s (TSANZ) COPD-X Guidelines state that the evidence to date demonstrates that alpha-1- antitrypsin augmentation therapy modifies the development of COPD as seen on CT scans. However it remains unclear if alpha-1-antitrypsin augmentation therapy improves clinical outcomes (symptoms and breathing test results).
The good news is that there are now trials underway in Australia and around the world which are designed to determine whether augmentation therapy can improve these clinical outcomes. Further information can be found at https://clinicaltrials.gov/. It is also important to note that the TSANZ is developing a dedicated position paper on Alpha-1 antitrypsin deficiency which will provide information on the state of alpha-1 antitrypsin deficiency in Australia.
What can I do if I have alpha-1-antitrypsin deficiency?
There are a number of things you can do to protect your lungs and keep them as healthy as possible including quitting smoking and avoiding dust, gas and fumes. Find out more and if you should get tested, at lungfoundation.com.au/alpha1.