What is Alpha 1-Antitrypsin Deficiency?

Alpha 1-Antitrypsin Deficiency is an inherited disorder. It is one of the more common hereditary disorders affecting those of European descent.

Alpha 1-Antitrypsin Deficiency causes a type of chronic obstructive pulmonary disease (COPD).


When foreign bodies or bacteria are introduced into the lungs the body’s defense mechanisms try to eradicate them. These defense mechanisms include white blood cells such as neutrophils and macrophages. These cells use the enzyme called trypsin (or neutrophil elastase) to destroy the foreign proteins.


Healthy bodies produce alpha 1-antitrypsin (in the liver) in order to inhibit the action of the phages and the trypsin from destroying lung tissue. Without the alpha 1-antitrypsin circulating to the lungs the gas exchange membranes are destroyed leading to an early onset and severe form of emphysema. Often as the AAT builds up in the liver, it causes liver failure as well.


Alpha 1-Antitrypsin is not well known by the public and as such is very underdiagnosed. This website aims to provide some basic information about the disorder.