Researchers have conducted a study which has found that Ireland has one of the highest incidences in the world of a genetic condition that causes severe hereditary emphysema

The study raises the possibility that hundreds of people suffering from chronic lung disease could have this genetic condition but have yet to be diagnosed. The inherited condition Alpha-1 antitrypsin deficiency (Alpha-1) results in the most severe form of hereditary emphysema. The genetic disorder is caused by a deficiency in Alpha-1 antitrypsin, which protects the lungs from the harmful effects of cigarette smoke and bacterial infection. People with the condition develop chronic obstructive pulmonary disease (COPD) in their 40s and 50s and can also develop liver disease. Thought to be a rare disease, this study has revealed that Alpha-1 is much more common than was expected in Ireland. One in 25 Irish individuals were found to be carriers for the gene responsible for the most severe form of Alpha-1, making the condition the most common fatal inherited lung condition in Ireland after cystic fibrosis. In its most severe form, Alpha-1 is estimated to affect more than 2,000 people nationally. The study found that a further 10,000 Irish individuals are also at increased risk from a less severe form of the condition and an even larger number of 170,000 individuals are carriers of the condition and may be at risk of developing lung disease, particularly if they smoke. Prof Gerry McElvaney, Professor of Medicine at the Royal College of Surgeons in Ireland and senior author on the research, said: “Our study shows the prevalence of Alpha-1 in Ireland is among the highest in the world and although a simple blood test is all that is required to diagnose this condition, over 90% of Alpha-1 individuals remain undiagnosed. The importance of an early diagnosis of Alpha-1 cannot be overstated as the proper medical follow-up and lifestyle changes can help prevent or at least delay the development of lung and liver disease associated with this condition and greatly increase life expectancy.”