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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Overall, about 1% of patients with pulmonary emphysema have alpha-1 antitrypsin deficiency, although the percentage is much higher among younger children. The disease frequently manifests in the third or fourth decade, often in association with cigarette smoking.

Jaundice develops in infancy in about 15% of individuals homozygous for the Z gene. Usually, this resolves but these individuals may progress to hepatic cirrhosis. About 20% of cirrhosis in children is attributed to alpha-1 antitrypsin deficiency.

Adults with the PiZZ phenotype may develop cirrhosis and hepatocellular carcinoma.


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