Alpha 1-antitrypsin deficiency historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]

Overview

Alpha 1-antitrypsin deficiency (A1AD) was discovered in 1963 by Carl-Bertil Laurell (1919–2001) and Eriksson at the University of Lund, Sweden. In 1969, Sharp et al was the first to discover the association between liver disease and development of A1AD.

Historical Perspective

  • In 1963, Carl-Bertil Laurell (1919–2001) and Eriksson at the University of Lund, Sweden was the first to discover A1AD at the General Hospital in Malmö, Sweden.[1][2]
  • Laurell, along with a medical resident, Sten Eriksson, observed the absence of the α1 band on protein electrophoresis in samples of patients. 60% of these patients were had developed emphysema at a young age.
  • In 1964, Gross described the animal model of emphysema caused by intratracheally instilled papain.
  • In 1967, Fagerhol described associated allelic variation of AAT.
  • In 1967, Janoff described neutrophil elastase.
  • In 1969, Sharp described association with neonatal cirrhosis. Sharp et al was the first to discover the association between liver disease and development of A1AD.

References

  1. Laurell CB, Eriksson S (1963). "The electrophoretic alpha 1-globulin pattern of serum in alpha 1-antitrypsin deficiency". Scand J Clin Lab Invest. 15: 132&ndash, 140.
  2. Sharp H, Bridges R, Krivit W, Freier E (1969). "Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder". J Lab Clin Med. 73 (6): 934–9. PMID 4182334.



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