Alpha-1 antitrypsin deficiency is a genetic disorder that is passed on in families and affects the lungs, liver and skin. When this condition affects the lungs, it causes COPD. There is no cure, but treatment can help people with Alpha-1 antitrypsin deficiency manage their symptoms and live a better life. The earliest symptoms are shortness of breath following mild activity, reduced ability to exercise, and wheezing. Other signs and symptoms 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. Alpha-1 antitrypsin deficiency accounts for 1 to 2% of all cases of chronic obstructive pulmonary disease.
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