Genetic Condition May Be Undiagnosed in COPD Patients

Hundreds of people suffering from chronic obstructive pulmonary disease (COPD) may have yet to be diagnosed with a genetic condition that causes severe hereditary emphysema, according to a recent study published in Respiratory Research.

The study, which was conducted by the Royal College of Surgeons in Ireland (RCSI), Beaumont Hospital and Trinity College Dublin, found that Ireland has one of the highest incidences in the world of this inherited condition known as alpha-1 antitrypsin deficiency (alpha-1).

The root of the most severe form of hereditary emphysema, alpha-1 is caused by a deficiency in alpha-1 antitrypsin, which protects the lungs from the harmful effects of cigarette smoke and bacterial infection. Patients diagnosed with alpha-1 typically develop COPD in their 40s and 50s and are prone to liver disease.

Thought to be a rare disease, alpha-1 is much more common than expected in Ireland, with one in 25 individuals found to be carriers, according to the study. These findings make alpha-1 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, while 10,000 individuals are at increased risk for a less severe form of the condition and 170,000 individuals are carriers and may be at risk of developing lung disease, particularly if they smoke.

“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 percent of alpha-1 individuals remain undiagnosed,” said Gerry McElvaney, Professor of Medicine at the RCSI and senior author on the research in a recent article from the Irish Medical Times. “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.”

McElvaney and colleagues hope that the findings of this study will lead to increased awareness of the disease and earlier diagnosis.

Click Here to Access the Study from Respiratory Research