What are the symptoms of Alpha 1-antitrypsin deficiency?
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). About 25% of children with alpha1-antitrypsin deficiency develop cirrhosis and excessive pressure in the portal vein (the vein that carries blood from the intestines to the liver) and die before age 12. About 25% die by age 20. Another 25% have only minor liver abnormalities and survive into adulthood. The remaining 25% do not develop liver abnormalities and have no evidence of progressive disease. dults with alpha1-antitrypsin deficiency commonly develop emphysema, a lung disease that results in increasing shortness of breath. Less commonly, adults with this disorder develop cirrhosis, which may eventually lead to liver cancer.
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