Alpha-1 antitrypsin deficiency (AATD) is a rare autosomal codominant hereditary disorder in which the protease inhibitor (PI), alpha-1 antitrypsin (AAT), is depleted in the bloodstream. Alpha-1 antitrypsin deficiency (AATD) is an autosomal dominant hereditary etiology of chronic obstructive pulmonary disease (COPD), with over 100 allelic variations identified. The normal allele is designated as “M,” whereas the most prevalent aberrant alleles are “Z” and “S.” The ZZ combination accounts for 95% of instances of severe illness. In the medical record, researchers described the features of individuals who were labeled with AATD. The current research discovered considerable variation in labeling people with AATD in the medical record, and it was true regardless of the participant’s age, gender, PFT measures, cigarette pack years, or whether the physician was a pulmonologist. Individuals may be diagnosed with AATD based on a suspicious clinical history, family history, past AATD testing, or the rising use of “direct-to-consumer” big panel genetic testing (e.g., 23andMe, Ancestry, Promethease, etc.).

In conclusion, the study emphasized the importance of continuing research into the impact of other mutations in disease development and opportunities for more specific labeling of persons with non-severe AATD and severe AATD to give extra clarification for patients and healthcare professionals.