Alpha 1-antitrypsin deficiency historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Overview

Alpha 1-antitrypsin deficiency (A1AD) is a relatively new disease. It was discovered in 1963 by Swedish researchers investigating the context of developed emphysema.

Historical Perspective

A1AD was discovered in 1963 by Carl-Bertil Laurell (1919–2001), at the University of Lund, Sweden.[1]

Laurell, along with a medical resident, Sten Eriksson, made the discovery after noting the absence of the α1 band on protein electrophoresis in five of 1500 samples; three of the five patient samples were found to have developed emphysema at a young age.

The link with liver disease was made six years later, when Sharp et al described A1AD in the context of liver disease.[2]

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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