Alpha-1 antitrypsin deficiency or A1AD is a genetic disorder that affects the body's production of the protein alpha-1 antitrypsin, which is vital in protecting against the enzyme neutrophil elastase. The white blood cells create the enzyme to fight infection -- it is harmless to already-healthy tissue unless levels of alpha-1 antitrypsin are low. Lung and liver tissue are particularly prone to damage by neutrophil elastase, which is why the primary dangers of A1AD are lung and liver disease.
Individuals with A1AD usually display symptoms of lung disease, including shortness of breath even without physical exertion, wheezing, fatigue, unexplained weight loss, and frequent respiratory infections. The deficiency also raises the risk of developing emphysema, the symptoms of which include difficulty breathing, a sharp or hacking cough, and a barrel-shaped chest.
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