Alpha-1 antitrypsin deficiency is associated with which pulmonary and hepatic conditions?

Alpha-1 antitrypsin deficiency is associated with which pulmonary and hepatic conditions?

• A. Emphysematous pulmonary disease
• B. Juvenile hepatic cirrhosis
• C. Emphysematous pulmonary disease and juvenile hepatic cirrhosis
• D. Liver failure only

Answer: (C)

Alpha-1 antitrypsin deficiency involves a genetic problem with a protease inhibitor produced by the liver. When this inhibitor is lacking in the lungs, neutrophil elastase can damage elastic tissue, leading to early-onset panacinar emphysema. At the same time, the abnormal protein accumulates in liver cells, causing liver injury that can range from neonatal hepatitis to cirrhosis in children (juvenile hepatic cirrhosis) and other adult liver diseases. So this deficiency is linked to both lung disease and liver disease, making the combination of emphysema and juvenile hepatic cirrhosis the best summary of its associations.

Alpha-1 antitrypsin deficiency involves a genetic problem with a protease inhibitor produced by the liver. When this inhibitor is lacking in the lungs, neutrophil elastase can damage elastic tissue, leading to early-onset panacinar emphysema. At the same time, the abnormal protein accumulates in liver cells, causing liver injury that can range from neonatal hepatitis to cirrhosis in children (juvenile hepatic cirrhosis) and other adult liver diseases. So this deficiency is linked to both lung disease and liver disease, making the combination of emphysema and juvenile hepatic cirrhosis the best summary of its associations.