Researchers discovered that never-smoking individuals who were identified with severe alpha-1 antitrypsin deficiency (AATD) through neonatal screening demonstrated a better prognosis compared to individuals who were ever-smokers, as published in the International Journal of Chronic Obstructive Pulmonary Disease

AATD is a disease that is often under-recognized or misdiagnosed, and even if a correct diagnosis is established, it is usually only after pulmonary destruction has started. AATD often results in an accelerated decline in lung function and frequent exacerbations of chronic obstructive pulmonary disease (COPD).

“In Sweden, the prevalence of severe AATD is approximately 1 of 1600 individuals, the investigation of the prevalence being based on a nationwide neonatal [alpha-1 antitrypsin] screening program undertaken between 1972–1974, when 129 of the 200,000 newborns were found to have severe AATD,” the researchers wrote.


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“This unique nationwide neonatal screening of AATD had the purposes to study the prevalence of AATD in Sweden, the natural history of AATD and to prevent early exposure to air pollutants (primarily cigarette smoke).”

Read more about AATD diagnosis

The Swedish nationwide neonatal screening of AATD and the subsequent follow-up of severe AATD makes it possibly 1 of the only AATD screening programs in the world that does so. It allows scientists to study AATD in a way that is not influenced by whether the patient was previously/currently a smoker, which is typically how most patients with AATD are diagnosed when neonatal screening is unavailable.

Hiller and colleagues identified 377 individuals identified with severe AATD from the Swedish AATD registry. “The risk factors for having a diagnosis of COPD were investigated through a proportional hazards model, adjusted for sex, diagnosis before the age of 14 years, smoking habits, occupational exposure to airway irritants and respiratory symptoms or diseases,” they wrote.

Among the 377 individuals, 156 (41%) were classified as ever-smokers and 221 (59%) as never-smokers. Comparing these 2 cohorts, never-smokers had better lung function, a lower annual decline in forced expiratory volume in the first second, fewer symptoms, and better survival.

“Diagnosing AATD at an early age, before the potential smoking debut, is important in order to prevent smoking and the occurrence of lung disease,” Hiller et al concluded.

Reference

Hiller AM, Piitulainen E, Tanash H. The clinical course of severe alpha-1-antitrypsin deficiency in patients identified by screeningInt J Chron Obstruct Pulmon Dis. 2022;17:43-52. doi:10.2147/COPD.S340241