What're the symptoms of alpha-1 antitrypsin deficiency?
Alpha-1-antitrypsin deficiency can lead to early onset of emphysema (a degenerative lung disorder) and/or liver failure. These symptoms usually appear when a person is in their 30's or 40's. Symptoms are more severe in smokers than in nonsmokers. A person with this disorder can be short of breath during daily activities. This is because the air sacs have been destroyed, and the lungs trap air as they expand and contract during breathing. Liver disease shows up either early on as "hepatitis or neonatal jaundice" and even cirrhosis (scarring of the liver), or later in life as cirrhosis and primary cancer of the liver (Hepatoma). In PiZZ people (at risk of severe liver disease), defective alpha-1 antitrypsin molecules tend to clump together in the liver cells producing toxic effects. Alpha-1 antitrypsin deficiency is the most common genetic or inherited cause of liver disease in infants and children. The symptoms of liver disease due to alpha-1 antitrypsin deficiency in adults are similar to those in older children. But the disease may not become apparent for years.
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