How does deficiency of α-1 AT cause disease?
Normally, our liver makes alpha-1 antitrypsin. The purpose of α-1 AT is to prevent trypsin and other natural proteins from breaking down normal tissues, particularly the connective tissue in lungs. These proteins are called “proteases.” They are secreted in white blood cells, and their purpose is to fight bacteria that cause infection. However, an excess amount of proteases can can also attack healthy lung tissue. Alpha-1 antitrypsin prevents that from happening. α-1 AT is more accurately termed alpha-1-antiprotease. However, most physicians refer to the disease as α-1 AT deficiency. With the genetic defect, the α-1 AT made in the liver is deformed, and doesn’t enter the blood stream to circulate where it’s needed. The deformed α-1 AT stays in the liver where it can do damage, although liver disease is mainly in newborns and children. The lung problem resulting from α-1 AT deficiency is emphysema, the same condition seen in many heavy smokers without α-1 AT deficiency. It shows up as s
