Alpha 1-antitrypsin Deficiency - Signs and Symptoms

Signs and Symptoms

Symptoms of alpha-1 antitrypsin deficiency include shortness of breath, wheezing, rhonchi, and rales. The patient's symptoms may resemble recurrent respiratory infections or asthma that does not respond to treatment. Individuals with A1AD may develop emphysema during their thirties or forties even without a history of significant smoking, though smoking greatly increases the risk for emphysema. A1AD also causes impaired liver function in some patients and may lead to cirrhosis and liver failure (15%). It is a leading indication for liver transplantation in newborns.

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