Alpha-1 antitrypsin deficiency is an inherited disorder that can lead to liver disease and lung problems.
The symptoms include:
People with alpha-1 antitrypsin deficiency usually develop the first symptoms between ages 20 and 50. They often develop emphysema, and smoking or exposure to second-hand smoke can intensify damage to the lungs.
Infants with alpha-1 antitrypsin deficiency may develop liver disease, which can cause jaundice. Some adults with alpha-1 antitrypsin deficiency can develop cirrhosis. People with alpha-1 antitrypsin deficiency are also at risk of developing hepatocellular carcinoma, a type of liver cancer.
Alpha-1 antitrypsin deficiency is diagnosed with a blood test. People with alpha-1 antitrypsin deficiency may go undiagnosed, particularly those with a chronic obstructive pulmonary disease. Alpha-1 antitrypsin deficiency can also be misdiagnosed as asthma.
