Alpha1-antitrypsin deficiency (AATD) was first identified by Carl-Bertil Laurell and Sten Eriksson (Laurell and Eriksson 1963) in 1963, who discovered a link between low plasma serum AAT levels and pulmonary emphysema symptoms. With time as the understanding of the genetic abnormalities grew, AAT deficiency came to be recognized as one of the most common hereditary disorders globally.
What is Alpha-1 antitrypsin deficiency?
As the name suggests, Alpha1 antitrypsin deficiency (AATD) is a hereditary disorder that is characterized by a lack or deficiency of alpha 1 antitrypsin in the blood, a protein that is important for the proper and healthy function...