A study published in the American Journal of Medicine found that race, age, tobacco use, and concomitant chronic obstructive pulmonary disease (COPD) influenced whether patients were tested for alpha-1 antitrypsin deficiency (AATD).

The study also revealed a low uptake of testing for AATD in clinical practice, with 5.6% of eligible individuals being tested at a single institution.

“The American Thoracic Society (ATS) and the World Health Organization (WHO) recommend testing all persons with chronic obstructive pulmonary disease and unexplained liver disease for alpha-1 antitrypsin deficiency; however, there is low uptake of this in clinical practice,” the authors wrote. “In this study, we aim to describe testing frequency for alpha-1 antitrypsin deficiency, and we hypothesize that patient characteristics influence who is tested.”

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The research team retrospectively studied a cohort of 75,810 individuals with newly diagnosed COPD and liver disease at a single institution in Florida, between January 1, 2012, and December 31, 2021. They performed an analysis of incidence and prevalence of testing for AATD and associated patient characteristics using adjusted multivariable logistic regression.

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The covariates of sex, race, ethnicity, tobacco use, presence of COPD, and presence of liver disease were examined.

The authors found that 5.6% of eligible patients, or 1 of 18, were tested for AATD. The regression analysis revealed that White individuals and those with concomitant COPD and liver disease were more frequently tested, and those who were non-White, older, current smokers, and male with COPD were less likely to be tested.

The team concludes that, although some improvements have been achieved in terms of population-based screening and case finding, testing for AATD continues to be low despite current guidelines recommending broader testing. They recommend further studies and improvements in the implementation of AAT testing in clinical practice.


Riley L, Sriram A, Brantly M, Lascano J. Testing patterns and disparities for alpha-1 antitrypsin deficiency. Am J Med. Published online July 13, 2023. doi:10.1016/j.amjmed.2023.06.020