ABSTRACT
Alpha-1 antitrypsin disease is a prototypical serpinase disease (disease due to deficiencies or abnormalities in the synthesis of serine proteinases). People with this disorder are homozygous for mutations in the alpha-1 antitrypsin gene. The full-blown disease is characterized by cirrhosis and emphysema. The pathogenesis of this disease is somewhat complex, because there are a variety of different possible mutations of the gene, and the clinical manifestations vary somewhat with the mutation type. The cirrhosis is apparently due to the intracellular accumulation of abnormal alpha-1 antitrypsin molecules within hepatocytes, and the emphysema is apparently the result of destructive effects of inflammation-inducing intrapulmonary trypsin levels, unopposed by antitrypsin.
