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Labelling Alpha-1 antitrypsin deficiency in the medical record - A call to action.

Respiratory medicine - 1 Mar 2022

Riley Leonard, Lascano Jorge

Abstract excerpt

Alpha-1 antitrypsin deficiency (AATD) is an autosomal codominant genetic cause of chronic obstructive pulmonary disease (COPD) with over 100 allelic variants described. The normal allele is termed "M"; whereas, the "Z" and "S" alleles are the most common abnormal alleles. The ZZ combination accounts for 95% of cases with severe disease. We described the characteristics of patients given the label of AATD in the...

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PMID: 35124356
DOI: 10.1016/j.rmed.2022.106749

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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