About Alpha-1

Alpha-1 antitrypsin (AAT) is an inherited condition. A mutation in the AAT gene gives rise to absent, abnormal or decreased levels of the AAT protein. Without functional AAT protein, the small air sacs of the lungs become damaged, causing shortness of breath, wheezing and lung disease. The accumulation of abnormal AAT protein in the liver contributes to liver damage, causing cirrhosis. This has lead some to describe AAT as the only condition where you can get “…emphysema without smoking, cirrhosis without drinking…” 

Key Points About Alpha-1

• Pharmac needs to recognise oxygen as a pharmaceutical and improve access to portable oxygen. Portable oxygen is not readily available and purchasing your own portable canister is costly (the canister costs approximately NZ$2000 and the cost to fill a canister is approximately $30 to cover a 2-hour period).
• Newborn care: neonates with jaundice lasting greater than two weeks need to be screened for alpha-1 deficiency.
• Alpha-1 should be included on the newborn screening list.
• Alpha-1 takes time to develop to the disease state. If a diagnosis is made while young, an affected person might make different lifestyle choices, e.g., not smoking or drinking.

Helpful Links

Genetics Home Reference
An excellent source of background information sponsored by the U.S. National Library of Medicine.

The Alpha-1 Association
A non-profit organisation based in the USA dedicated to improving the quality of life for those affected by alpha-1 antitrypsin deficiency (Alpha-1). Good source of background information, including treatment options (for the USA), and links to other organisations.