Extract
After the discovery of lung emphysema associated with α1-antitrypsin (AAT) deficiency (AATD) in 1963 by Laurell and Eriksson [1], basic and clinical advances in the AATD field have been dramatic and relatively fast [2]. It was soon confirmed that AATD was an inherited codominant recessive condition, but it took seven more years to associate AATD-related lung emphysema with neutrophil elastase [3, 4], and between 7 to 10 years to discover its causal relationship with childhood and adult liver cirrhosis [5, 6], and with neutrophilic panniculitis [7]. In the 1970s, isoelectric focusing (IEF) became the technique of choice for diagnosis, capable of identifying more than 30 AAT variants [8].
Abstract
Despite its high prevalence and being one of the first genotypes identified in the field of α1-antitrypsin deficiency, the PI*SZ genotype has been little studied, and many unknowns regarding its clinical significance remain unanswered. https://bit.ly/3aut4ZE
Footnotes
Conflict of interest: I. Blanco has nothing to disclose.
Conflict of interest: I. Diego has nothing to disclose.
- Received March 16, 2020.
- Accepted March 24, 2020.
- Copyright ©ERS 2020