Alpha-1-Antitrypsin Deficiency

Abstract

Two disparate disease states—an adult form of emphysema and a childhood form of liver cirrhosis—have been linked to an inherited absence of this antienzyme. In their severe, homozygous forms, both conditions carry a grave prognosis. The question of increased risk to the heterozygote is unsettled, but parents of a child with the liver disease should probably be screened to assess the chance that future offspring will be affected.