When Alpha-1 is deficient or absent, infection or inflammation can destroy tissue cells. Alpha-1 is produced in the liver and is normally released into the blood. A gene mutation sometimes produces an abnormal form of this protein which gets hung up in the liver and can 92t enter the blood stream. Another form PiS is more common but causes a less severe deficiency. Other variants also occur.
Cigarettes are almost always the precipitating cause of the lung disease in such subjects.
Rarely is emphysema seen in Alpha-1 deficient subjects who have never smoked or have not been exposed to unusual amounts of environmental pollution. The type of emphysema produced with Alpha-1 is usually the panacinar type, and most seriously affects the lower portions of the lungs. This is a diffuse type of emphysema. Inhaled Alpha-1 is currently being tested and should prove successful. To date only minimal success has been achieved by this method, but it is extremely promising.