Unraveling the Mysteries of Alpha1-Antitrypsin Deficiency

Abstract

Alpha1-antitrypsin deficiency (also known as α₁-protease-inhibitor deficiency) is a genetic disorder that has become known to physicians in most disciplines and to the lay public. Some of the genetic types (known as Pi types, including Z and S) cause sequestration of α₁-antitrypsin in the liver, which leads to low concentrations of the substance in the blood. The great interest in this disease has been engendered by the prospect that pulmonary emphysema, its principal clinical manifestation, may soon be treated by replacing the protein lacking in the blood and lungs of patients. This issue of the Journal . . .