Alpha-1 Antitrypsin Deficiency is a rare genetic disorder that limits the body’s ability to produce the protein called Alpha-1 Antitrypsin. When this protein is reduced or absent, the level of elastase enzyme in the body can be too high and can cause damage to the lungs, liver and skin. Lung involvement causes emphysema and chronic bronchitis. Not everyone with Alpha-1 Antitrypsin Deficiency develops symptoms but those at higher risk include those who smoke, are exposed to second hand smoke or dusty environments, or have frequent lung infections or asthma.
Symptoms of Alpha-1 Antitrypsin Deficiency are shortness of breath, cough with sputum production, fatigue (feeling tired) and wheezing. Those with liver and skin involvement can have additional symptoms.
Diagnosis of Alpha-1 Antitrypsin Deficiency is obtained with a blood test. If your levels are low, genetic testing (also a blood test) may be performed to determine what type of abnormal gene was passed to you from your parent(s). Other baseline testing can include chest x-ray or CAT scan, a breathing test to measure your breathing ability, and blood tests to check your liver.
Treatment is based on the results of your testing and the symptoms you are experiencing. If you do not have symptoms, regular monitoring may be recommended. Individuals with lung disease should stop smoking and may be placed on inhaled medication. Current non-smokers may be considered for Alpha-1 Antitrypsin replacement. Lung reduction surgery or lung transplant may be recommended for those with advanced lung disease.