Alpha-1 antitrypsin
Alpha-1 antitrypsin deficiency is a genetic condition (runs in certain families) that can lead to the early development of emphysema, especially in smoker. Alpha-1 antitrypsin is a protein produced by the liver. It plays a role in the protection of the lungs from a substance called neutrophil elastase. Neutrophil elastase is released by white cells; it is responsible for the destruction of alveoli (air sacs). The speed at which this occurs varies. Smoking worsens the damage as it weakens the ability of Alpha-1 antitrypsin to protect lung tissue. Symptoms are similar to those seen in emphysema, but could occur at an earlier stage; they include:
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Difficulty breathing or exhaling
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Difficulty "catching" a breath
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Cough and phlegm production
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Wheezing
Management of Alpha-1 antitrypsin deficiency starts with an early diagnosis. Patient assessment involves a thorough physical exam, history, complete lung function testing, and specialized blood testing. Smoking cessation and avoidance of environmental pollutants, pulmonary rehabilitation, drug therapy, and augmentation therapy (increasing the blood levels of the alpha-1 antitrypsin protein) can slow the development of the disease.