“Emphysema without smoking, cirrhosis without drinking”

What is alpha-1 antitrypsin deficiency?

Alpha-1 New Zealand is a support group for individuals and their families affected by alpha-1 antitrypsin (AAT) deficiency. 

There are 3 main conditions that arise with AAT deficiency:

  • Lung disease often diagnosed as COPD.
  • Cirrhosis of the liver, which can occur in children and adults. If caught early, the cirrhosis can be managed.
  • Panniculitis, an inflammation in the fatty tissue under the skin. Can occur in children and adults.

AAT deficiency is an inherited condition. A mutation in the SERPINA1 gene (the “alpha-1” gene) gives rise to abnormal, absent or diminished amounts of AAT protein.

AAT normally controls the activity of other enzymes, one of which is neutrophil elastase. Without functional AAT, neutrophil elastase can damage the small air sacs of the lungs (alveoli). An accumulation of abnormal AAT in the liver contributes to liver damage.

AAT deficiency is commonly diagnosed as COPD (chronic obstructive pulmonary disease), asthma, chronic bronchitis, and bronchiectasis. Those affected by AAT deficiency are susceptible to lung infections.

  • AAT deficiency often goes undetected for years.
  • AAT deficiency can be treated, but cannot be cured.
  • AAT deficiency is easy to detect through a blood test.


Symptoms include:

  • Lung disease beginning at age 20–50 yrs
  • Shortness of breath following mild activity
  • Reduced ability to exercise
  • Wheeze

Other symptoms include:

  • Unintended weight loss
  • Fatigue
  • Rapid heartbeat upon standing
  • Vision abnormalities

Signs of liver damage include:

  • Swollen abdomen
  • Swollen feet or legs
  • Yellowing of the skin and whites of the eyes (jaundice)
  • Newborns with jaundice lasting longer than 2 weeks should be tested for AAT

The World Health Organization (WHO) recommends that all individuals with COPD, as well as adults and adolescents with asthma, be tested for AAT deficiency.

“AAT deficiency is the most common metabolic-genetic indication for a liver transplant in children.” – Jan Stolk and colleagues (2006) “Alpha1-antitrypsin deficiency: current perspective on research, diagnosis, and management.” International Journal of COPD, vol. 1, issue 2, pps. 151–60. (Prof. Stolk was a participant in the Alpha1 International Registry and collaborates with the Canterbury Respiratory Research Group in NZ).

Does this apply to us in NZ? Yes, according to Wilde et al (2007) “Paediatric liver transplantation in New Zealand: the first 5 years.” NZ Medical Journal, 24 August, vol. 120, no. 1260.

Treatment Options

In NZ, there are no treatment options beyond the normal treatment for liver disease and COPD.  However, clinical trial opportunities may be available (see link for previous trial with Middlemore Hospital, Auckland). Talk to your specialist if you are interested in participating in a trial.

We need to encourage Government to recognise oxygen as a pharmaceutical need. Portable oxygen is not readily available, and purchasing your own portable canister is costly (the canister costs approx NZ$2000, and the cost to fill is approx $30 to cover a 2-hr period).


Contact for more information

Support group for Alpha-1-Antitrypsin

Postal address: 50A Chatsworth Rd, Silverstream, Upper Hutt

Phone: 04 528 7050

E-mail: alpha1.info@nzord.org.nz