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Library of Medicine®| Alpha-1 antitrypsin deficiency On this
page: Reviewed January 2013 What is alpha-1 antitrypsin
deficiency? Alpha-1 antitrypsin deficiency is an inherited
disorder that may cause lung disease and liver disease. The
signs and symptoms of the condition and the age at which they
appear vary among individuals. People with alpha-1 antitrypsin
deficiency usually develop the first signs and symptoms of lung
disease between ages 20 and 50. The earliest symptoms are
shortness of breath following mild activity, reduced ability to
exercise, and wheezing. Other signs and symptoms can include
unintentional weight loss, recurring respiratory infections,
fatigue, and rapid heartbeat upon standing. Affected individuals
often develop emphysema, which is a lung disease caused by
damage to the small air sacs in the lungs (alveoli).
Characteristic features of emphysema include difficulty
breathing, a hacking cough, and a barrel-shaped chest. Smoking o