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Showing posts with the label Lung diseases

What happens with an alpha-1 antitrypsin deficiency?

  Alpha-1 antitrypsin deficiency is an inherited condition that can cause lung and liver damage 13 .  It is caused by variants in the SERPINA1 gene that provide instructions for making a protein called alpha-1 antitrypsin 1 .  This protein protects the body from a powerful enzyme called neutrophil elastase, which is released from white blood cells to fight infection. If not tightly controlled by alpha-1 antitrypsin, neutrophil elastase can attack normal tissues, especially the lungs 1 . Symptoms The most common symptom of alpha-1 antitrypsin deficiency is shortness of breath after physical activity 8 .  Other respiratory symptoms include wheezing, coughing, and recurring respiratory infections 3 .  Patients may also experience reduced ability to exercise, fatigue, and rapid heartbeat upon standing 3 .  Eventually, patients may develop emphysema, a condition in which the small air sacs in the lungs become damaged 3 .  About 10% to 15% of patients with a...