Minister for Health Leo Varadkar visited the Alpha One Foundation, based in the Royal College of Surgeons in Ireland Smurfit Building at Beaumont Hospital today to learn about Alpha-1, a genetic condition that causes lung and liver disease.

Minister Varadkar met staff of the Alpha One Foundation during his visit and also spoke to Josephine McGuirk, who was diagnosed with Alpha-1 15 years ago following her brother’s diagnosis.

Alpha-1 antitrypsin is a protein which protects the lungs and deficient individuals with lower than normal amounts of this protein are at an increased risk of developing chronic obstructive pulmonary disease (COPD), a debilitating lung condition. Alpha-1 antitrypsin deficiency (Alpha-1) affects approximately 250,000 people on the island of Ireland. It is estimated one in 25 people in Ireland carry the gene that causes Alpha-1, and a further 12,000 individuals have the severe form of the condition. Cigarette smoke is the most influential factor in determining whether Alpha-1 individuals go on to develop COPD. 

The Alpha One Foundation recommends that people who have been diagnosed with COPD should be tested for Alpha-1.

Professor Gerry McElvaney, Professor of Medicine at RCSI, principal investigator and chairman of the Alpha One Foundation Ireland, said: “If people know that they have a genetic predisposition to developing COPD, it allows intervention at an earlier age, encourages smoking cessation and prevents a further decline in lung function in a disease that is otherwise preventable. It also provides an opportunity for other family members to get tested for Alpha-1."

“Funded by the Department of Health and Children, the Alpha One Foundation provides a free national screening programme for Alpha-1, the only national screening programme in the world. We strongly urge people to avail of this service, particularly if they have COPD. Also as Alpha-1 is a hereditary condition, we recommend that all first degree family members of individuals with Alpha-1 should be tested. It can be easily diagnosed by a simple blood test. For more information on how to be tested, contact the National Centre for Alpha-1 based at Beaumont Hospital, Dublin,” added Professor McElvaney.

The Alpha One Foundation co-ordinates the national screening programme for Alpha-1 at Beaumont Hospital, Dublin. 

The World Health Organisation (WHO) guidelines recommend the following groups should be tested: 

• All chronic obstructive pulmonary disease (COPD) patients
• All non-responsive asthmatics
• All cryptogenic liver disease patients
• All first-degree relatives of people with Alpha-1
• Individuals with reduced levels of AAT
• Patients with panniculitis