|The Alpha One Foundation|
Alpha-1 is a common inherited disease but is massively under-diagnosed, and affects over 250,000 carriers on the island of Ireland, with 3,000 of these having severe deficiency (The Prevalence of Alpha-1 Antitrypsin Deficiency in Ireland, Respiratory Research, 2011 July 13;12:91). If undetected, Alpha-1 leads to severe lung and liver disease. Most patients present in their 40s and 50s with early-onset emphysema or chronic obstructive pulmonary disease (COPD) but this presentation can occur later in life. A sub-group presents with liver disease in the first year of life and may require liver transplantation. Early diagnosis is vital for health and welfare of our patients, and this is our main objective. For example, the average Alpha-1 patient in the US sees 5 doctors over 7 years before a correct diagnosis.
The Alpha One Foundation has affiliations with the Irish Donor Network, the Irish Asthma Society, the Medical Research Charities Group, the Irish Platform for Patient Organisations Science and Industry (IPPOSI), and several other organisations dedicated to improving lung health. We support our active Alpha-1 patient group which promotes understanding and awareness of the condition among patients and their families, as well as providing much needed peer-to-peer support for newly-diagnosed Alphas.
- Increasing awareness of Alpha-1 Antitrypsin Deficiency (Alpha-1), amongst both the medical profession and the general public.
Alpha-1 antitrypsin is an important protein produced by the liver, which is released into the bloodstream and travels to the lungs. Once inside the lungs it provides protection from the destructive effects of infections and harmful irritants, particularly tobacco smoke.
Alpha-1 antitrypsin deficiency (Alpha-1) is a genetic condition which, along with cystic fibrosis, is the commonest genetic lung disease in Ireland. It severely affects more than 2,000 people nationally, with another 10,000 individuals also at risk of lung and liver disease. It is the only proven genetic risk factor for COPD.