The protease inhibitor A1-antitrypsin (AAT), is present in plasma at high concentrations and inhibits the action of trypsin as well as the elastase of neutrophil granulocytes.
A1-antitrypsin deficiency leads to uncontrolled action of trypsin and elastase. Pulmonary emphysema and chronic obstructive pulmonary disease are among the most common pathological conditions resulting from A1-antitrypsin deficiency. In addition, due to the toxic effect of accumulated A1-antitrypsin on liver cells, clinical conditions such as liver cirrhosis and/or liver carcinoma develop as the disease progresses.
The causes of hereditary deficiency of A1-antitrypsin are mainly two variants of the SERPINA1 gene, which encodes A1-antitrypsin. In contrast to normal (M) alleles, pathological alleles Z and S are associated with significantly lower plasma A1-antitrypsin concentrations. The Z allele is the most common and causes the most significant enzyme deficiency (95% of all patients with severe A1-antitrypsin deficiency), whereas heterozygous carriers (MZ or SZ) and SS homozygous carriers usually only suffer if other risk factors coexist, such as smoking. By timely diagnosis and modification of patients' behavior to avoid such negative factors, the clinical consequences of A1-antitrypsin deficiency may be prevented or minimized.
A1-antitrypsin deficiency, with an incidence of approximately 1:2.000, is one of the most common, potentially fatal, hereditary diseases in Europe.
Laboratory test results are the most important parameter for the diagnosis and monitoring of all pathological conditions. 70%-80% of diagnostic decisions are based on laboratory tests. The correct interpretation of laboratory results allows a doctor to distinguish "healthy" from "diseased".
Laboratory test results should not be interpreted from the numerical result of a single analysis. Test results should be interpreted in relation to each individual case and family history, clinical findings, and the results of other laboratory tests and information. Your personal physician should explain the importance of your test results.
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