Abstract
α1-Antitrypsin deficiency is classified as an orphan disease. The main target organs are the lungs, liver and skin. Typical respiratory manifestations are emphysema and bronchiectasis, which often lead to disability as the disease progresses. To slow the progression of lung pathology, replacement therapy with an α1-proteinase inhibitor is used worldwide.The aim of this article is to familiarize physicians with a rare lung disease that leads to the early development of emphysema and chronic obstructive pulmonary disease.Conclusion. Early detection of lung pathology associated with α1-antitrypsin deficiency allows timely prescription of the necessary replacement therapy, which in turn leads to an increase in the duration and improvement in the quality of life of patients with this pathology.
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