Alpha1-antitrypsin deficiency

AATD is an inherited genetic condition. Everyone has two copies of the gene responsible for AAT protein production in the liver. Each parent passes one of the two possible AAT genes to their child. If you receive one faulty gene from either of your parents, you are considered to be a carrier of a  defective AAT gene. Your body should still produce enough AAT to protect your lungs, however, some people with one faulty gene may develop lung problems if they smoke.

If both parents pass on a faulty gene, you will almost certainly develop AATD. If you have AATD you are more likely to develop COPD. This is likely to be diagnosed at a younger age than usual and it may progress more rapidly than COPD that is not attributed to AATD. Smoking is the most crucial risk factor in contributing to the development of COPD for people with AATD. Exposure to secondhand smoke, working in a dusty environment, having asthma or a history of repeated lung infections
can also increase the risk of developing COPD.

Common symptoms of AATD-related COPD include:
• Shortness of breath (breathlessness)
• A repetitive cough that doesn’t get better
• Increased phlegm or mucus production
• Feeling tired or low energy
• Low exercise tolerance
• More frequent chest infections or taking longer to recover from a cold or chest infection.

AATD is a disease that can affect males and females of all ages and ethnic backgrounds. It is estimated there are 30,000 people in Australia and New Zealand with AATD, however, less than 10% of these people have been diagnosed [1]. Around 1% of all patients with COPD have AATD.

AATD is diagnosed via a simple blood test which measures the level of AAT in your blood. Your doctor will likely also perform a physical examination and ask about your family history. The symptoms of AATD are often associated with other conditions which can lead to delays in diagnosis. If you have early onset COPD, or you have parents or close relatives who have been diagnosed with AATD, it is worthwhile considering getting tested for the condition.

Although there is no current cure for AATD, early diagnosis and treatment of AATD related COPD is important as it enables you to make positive lifestyle changes to protect your lung health, which can help to slow the progression of the disease and improve how you feel. You may also be prescribed inhalers to treat your symptoms and help to reduce the risk of flare-ups.

Currently, augmentation therapy is the only treatment specifically designed for AATD. It has been approved for use in Australia, however the cost is not covered by Medicare. This treatment involves intravenous infusions of AAT concentrate to correct the deficiency in the blood and lungs. Evidence about how this treatment impacts outcomes such as symptom severity and breathing test results is still
emerging. Speak with your respiratory specialist about the best options for you and your specific symptoms.