Abstract
Alpha-1 antitrypsin deficiency (DAAT) is a rare autosomal recessive genetic disorder caused by mutations in the Serpina1 gene. The role of alpha-1 antitrypsin (A1AT) is to maintain homeostasis in the acute phase of inflammation. DAAT manifests itself primarily in carriers of the Z allele, especially in the homozygous state, as emphysema and chronic liver disease. Although the diagnostic strategy is well defined and screening is fully reimbursed, DAAT is still largely underdiagnosed. In addition to simple lifestyle advice, which is essential once the diagnosis has been made, the specific treatment for severe deficiency and lung involvement is based on substitution with purified human A1AT, which slows the development of pulmonary emphysema.
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