MeSH

Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.

Year introduced: 1998

A heriditary autosomal recessive disorder characterized by early-onset EMPHYSEMA, which becomes evident during young adulthood; TOBACCO SMOKING greatly increases the risk for emphysema at an earlier age. LIVER CIRRHOSIS and LIVER FAILURE may also occur in younger patients, but are less common. Mutations in the SERPINA1 gene have been identified. OMIM: 613490

Date introduced: November 5, 2012