What Is Alpha-1 Antitrypsin Deficiency Disorder?
It is a genetic defect in the production of a protective protein called alpha-1 antitrypsin, which is made in the liver and circulates in the bloodstream. This protein primarily protects the lungs against an enzyme known as neutrophil elastase, which our body uses to break down bacterial cell walls, but it also has the collateral damage of breaking down elastin, the support protein of the lung. This results in the development of emphysema. Some individuals with a genetic disposition for the disease go through life and never develop emphysema; others develop early-onset severe emphysema in their 40s and 50s. The disease is exacerbated by smoking and exposure to other noxious inhaled stimuli that lead to inflammation of the lungs. How common is it, and how is it diagnosed? It is very much under-recognized. The best estimate in the U.S. is there are probably about 100,000 severely affected Americans. If one looks at carriers of the disease, that probably affects 3 percent of Americans. It
