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Correct diagnosis of genetic condition could help patients stop smoking

By David Lynch - 03rd Mar 2021

New research shows that people diagnosed with a genetic condition, called alpha-1 antitrypsin deficiency (AATD), are far more likely to stop smoking and therefore prevent the development of lung disease.

The study, led by researchers from RCSI University of Medicine and Health Science, is published in COPD: Journal of Chronic Obstructive Pulmonary Disease.

It is estimated that 265,000 people on the island of Ireland are affected by either severe or moderate AATD, but the vast majority of people with AATD have not been diagnosed.

Previously, it was assumed that only people with severe AATD were at risk of lung disease.  Recent Irish research has shown that people with the far more common moderate form of AATD are also at risk of lung disease if they are smokers.

The researchers surveyed patients enrolled in the National AATD Registry.

Of the 293 respondents, 58 reported being smokers at the time of their AATD diagnosis. Their subsequent reported quit rate was 70.7 per cent.

“Our study has shown that those who receive a diagnosis of alpha-1 antitrypsin deficiency are far more likely to stop smoking,” said Dr Tomás Carroll, senior lecturer at RCSI and the study’s corresponding author.

“We hope this study will lead to increased testing for AATD, with more people being diagnosed and choosing to stop or completely avoid smoking in order to prevent lung disease from developing.”

The research also found that people who reported having a parent who smoked were far more likely to become smokers themselves. Those with a parent who smoked were 84 per cent more likely to smoke than those who did not.

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