Alpha-1 Antitrypsin Deficiency, commonly referred to as Alpha-1, is a genetic condition that can result in serious lung and/or liver disease at any age. People with Alpha-1 have received two abnormal alpha-1 antitrypsis genes, one from mom and one from dad.
The Alpha-1 antitrypsin (AAT) protein functions to protect the lungs from inflammation caused by infection or irritants like tobacco smoke. A decrease of AAT in the blood can lead to lung damage because the lungs lose their protection and begin to destroy themselves. The most common signs and symptoms related to the lungs are the same as those occurring in COPD: cough, shortness of breath, wheezing and year-round allergies.
About 1 in 2,500 Americans have Alpha-1, so early diagnosis is key to remaining healthy and involves only a simple blood test. Quitting smoking is a must, even with treatment. Because Alpha-1 symptoms are similar to those of COPD, the World Health Organization, American Thoracic Society and the European Respiratory Society recommend that everyone with COPD be tested for Alpha-1. About 1 of every 200 people tested will have positive test results.
Once diagnosed, treatment involves replacement therapy which uses AAT from healthy human donors to increase the AAT protein levels in the blood and lungs of Alphas with emphysema. It is given weekly via IV infusion and is considered to be a lifelong treatment. This treatment should be used in conjunction with quitting smoking, exercise, proper use of antibiotics and oxygen therapy if necessary.
The goals of therapy are to slow or stop the progression of lung destruction, but it can’t restore lost lung function and is not considered a cure. However, those afflicted can continue to lead full lives depending on their individual condition. If you or a loved one has been diagnosed with COPD, talk to your pulmonologist about getting tested for Alpha-1. It might just change your life.