Review of methods for the diagnosis of α1-antitrypsin deficiency
DOI: 10.32364/2587-6821-2025-9-8-5
A.G. Chermensky, T.E. Gembitskaya, A.L. Alexandrov, O.N. Titova
Pavlov First St. Petersburg State Medical University, St. Petersburg, Russian Federation
The article presents both routine and the most promising methods for diagnosing α1-antitrypsin (A1AT) deficiency. Currently, the role of severe A1AT deficiency (associated with specific phenotypes) has been established in the development of primary pulmonary emphysema. However, genetic predisposition to such types of emphysema accounts for a relatively small proportion (2–5%) of the overall population of patients with chronic obstructive pulmonary disease (COPD). Of interest is the prevalence of marked A1AT deficiency in various populations, as well as the association of A1AT deficiency with certain forms of pulmonary pathology (including emphysema, COPD, bronchiectasis, and pulmonary granulomatosis), smoking, hepatic involvement, and other conditions. In addition, management and treatment tactics for these patients — including, importantly, etiological approaches such as replacement therapy — are discussed.
Routine diagnostic methods for A1AT deficiency include measurement of serum A1AT levels using accessible and easily transportable techniques, as well as determination of protein phenotype and the severity of mutations in the gene encoding the enzyme. However, the severity of clinical manifestations and functional MRI findings does not always correlate with the concentration and phenotype of the protein. As a result, ongoing research is focused on the identification of other biological markers and modifier genes that may influence disease severity to refine prognostic assessment.
The frequency of A1AT deficiency as a contributing factor in COPD remains unknown in most countries. Therefore, screening studies for A1AT deficiency are ongoing among patients with chronic nonspecific lung diseases and in risk groups, and in some countries, newborn screening for A1AT deficiency has been implemented.
Keywords: alpha-1 antitrypsin deficiency, SERPINA1, emphysema, COPD, nephelometry, isoelectric focusing.
For citation: Chermensky A.G., Gembitskaya T.E., Alexandrov A.L., Titova O.N. Review of methods for the diagnosis of α1-antitrypsin deficiency. Russian Medical Inquiry. 2025;9(8):–466 (in Russ.). DOI: 10.32364/2587-6821-2025-9-8-5
About the authors:
Alexey G. Chermensky — C. Sc. (Med.), Senior Researcher at the Department of Therapeutic Pulmonology, Research Institute of Pulmonology, Pavlov First St. Petersburg State Medical University; 6–8, Lev Tolstoy str., St. Petersburg, 197022, Russian Federation; ORCID iD 0000-0003-1487-4182
Tatiana Y. Gembitskaya — Dr. Sc. (Med.), Professor, Head of the Department of Therapeutic Pulmonology, Research Institute of Pulmonology, Pavlov First St. Petersburg State Medical University; 6–8, Lev Tolstoy str., St. Petersburg, 197022, Russian Federation; ORCID iD 0000-0002-2293-3739
Albert L. Alexandrov — Dr. Sc. (Med.), Professor, Head of the Department of Clinical and Experimental Pathology of Respiratory Organs, Research Institute of Pulmonology, Pavlov First St. Petersburg State Medical University; 6–8, Lev Tolstoy str., St. Petersburg, 197022, Russian Federation.
Olga N. Titova — Dr. Sc. (Med.), Director of the Research Institute of Pulmonology, Pavlov First St. Petersburg State Medical University; 6-8, Lev Tolstoy str., St. Petersburg, 197022, Russian Federation; ORCID iD 0000-0003-4678-3904
Contact information: Alexey G. Chermensky, e-mail: tchermenski@mail.ru
Financial Disclosure: no authors have a financial or property interest in any material or method mentioned.
There is no conflict of interest.
Received 15.07.2025.
Revised 07.08.2025.
Accepted 28.08.2025.
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