Alpha-1 antitrypsin (AAT) is a protein produced by the liver that protects the lungs against cigarette smoke and other inhaled substances. Alpha-1 antitrypsin deficiency (or simply Alpha-1) is a genetic condition where the body does not produce enough AAT. The lack of AAT can lead to lung damage and the development of the common lung disease chronic obstructive pulmonary disease (COPD). COPD is a growing cause of death and will become the 3rd biggest killer by 2020. In addition, AATD can lead to liver disease. The most common AAT gene variant linked to disease is the Z variant. The carrier rate for Z in Ireland is 1 in 25 making it the most common genetic condition after cystic fibrosis. The most severe form of Alpha-1 is where individuals inherit 2 copies of the Z variant, referred to as ZZ. We have shown there are over 3,000 ZZ individuals on the island of Ireland. The Alpha One Foundation based at RCSI Beaumont is the site of the National AATD Screening Programme which tests 2,000 people per year. The National AATD Registry began in 2004 and there are over 250 AATD individuals enrolled. The majority of these individuals attend the National Alpha-1 Clinic at Beaumont Hospital under the care of Professor McElvaney.
The major aim of the project is to examine trends in diagnosis and disease progression of people with Alpha-1 in Ireland. This project will generate important new information and may point towards potential new treatments for the disorder.
