Are we testing enough for alpha-1 antitrypsin deficiency (AATD) in patients who develop chronic obstructive pulmonary disease (COPD)? Rao and colleagues set out to investigate the answer to this question. They discovered that only 20.6% of COPD patients underwent AATD testing, despite the majority of physicians demonstrating awareness of the importance to test all newly diagnosed COPD patients for AATD, according to a study published in Chest.

The study is being presented at the Chest 2021 Annual Meeting, being held virtually Oct. 17-20, 2021.

The research team conducted a retrospective study using electronic records of patients registered within their COPD care pathway. They analyzed whether these patients underwent AATD testing. In addition, the researchers sent a single-question questionnaire to physicians regarding their opinion on AATD testing in their clinics: “Which of the following best describes your thoughts when it relates to free and recommended testing for Alpha 1 Antitrypsin deficiency in COPD patients in the clinic?”

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A total of 1790 patients with COPD were identified through the database. Of these, only 369 (20.6%) had undergone AATD testing. Among the 369 patients tested for AATD, only 243 were tested for their mutation genotype.

As for the survey sent to physicians, only about 55% declared that they always test for AATD in patients with COPD. A further 20% indicated that they forget to test, 20% ordered tests that were never completed, and 5% were unaware that the testing was free. 

The results showing that only about one-fifth of patients with COPD were tested for AATD prompted the researchers to recommend future changes be made. They wrote, “A specific action plan is being discussed to improve testing of AAT in all patients diagnosed with COPD, leading to better quality of care for our patients.”

COPD is the fourth leading cause of death globally, and one of its major causes is AATD. The main purpose of testing newly diagnosed COPD patients for AATD is to allow physicians to identify family members who potentially have the disorder, since it is inherited in an autosomal codominant manner. In addition, AATD detection may open up opportunities for physicians to have a discussion with AATD-positive patients on the importance of smoking cessation and avoiding workplace hazards.


Rao S, DiSilvio B, Dumont T. Alpha-1 antitrypsin deficiency: are we testing enough? Chest. Published online October 11, 2021. doi:10.1016/j.chest.2021.07.1624