What is the historical background of alpha1-antitrypsin deficiency (AATD)?

Updated: Sep 11, 2020
  • Author: Dora E Izaguirre Anariba, MD, MPH; Chief Editor: John J Oppenheimer, MD  more...
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Answer

Alpha1-antitrypsin deficiency (AATD, AAT deficiency) is an inherited condition that increases the risk of lung and liver disease. Alpha1-antitrypsin is a protein made by the liver whose function is to protect the lungs. If these proteins are malformed or deficient, the impact is a predisposition for obstructive pulmonary disease and liver disease.

Alpha1-antitrypsin deficiency (AATD) was first described by Laurell and Eriksson in 1963. [1, 2] Laurell noted the absence of the band of alpha1- protein in 5 of 1500 serum protein electrophoreses (SPEP) submitted to his laboratory in Sweden. [1] Laurell and Eriksson found that 3 of the 5 of these patients had emphysema at a young age, and that one had a family history of emphysema. Hence, the cardinal clinical features of AATD were established: absence of a protein in the alpha1 region of the SPEP, emphysema with early onset, and a genetic predisposition. [1]


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