Provider education in alpha 1 antitrypsin deficiency: try again, fail again, fail better

Alpha-1 antitrypsin (AAT) deficiency (AATD) was first described by Laurell and Eriksson in 1963. During the following 60 years, our understanding of the pathogenesis of this condition has increased exponentially, and various treatment strategies have been developed. Lagging behind this is our ability to identify people with AATD in a timely manner before the onset of irreversible lung and liver destruction. The diagnosis of AATD is simple, with an initial step of quantifying AAT levels in the blood, preferably with a measurement of C-reactive protein to out rule an acute-phase response. A low level should be further clarified by phenotyping and/or genotyping, and gene sequencing as required. It is clear, however, that a very significant percentage of the AATD population remains undiagnosed or is diagnosed too late.