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Alpha-1 antitrypsin deficiency (AATD) is an under-recognized condition with only a small minority of affected individuals detected, long delays between initial symptoms and diagnosis, and evidence that affected individuals may see many physicians with suggestive symptoms before an initial diagnosis is made. In the context that failure to detect AATD confers harm and that specific therapy is currently available, there is a clear need for enhanced detection. Impediments to enhanced detection include inadequate knowledge about AATD by physicians caring for at-risk patients, inattention to guidelines which endorse testing, a sense of therapeutic nihilism among some physicians (i.e., the misimpression that because specific therapy is unavailable, there is no imperative to diagnose), and concerns about the cost of testing. Various measures have been undertaken to address these impediments and to enhance detection, including educational programs; targeted detection programs (some with free and home-based confidential testing); population-based, and newborn screening pilot programs, the latter not yet nationally endorsed for large-scale screening. Novel approaches are deploying features of the electronic medical record and of artificial intelligence to prompt testing in at-risk individuals. To the extent that under-recognition of AATD persists with stubbornly long, multi-year diagnostic delay intervals, none of the detection strategies deployed to date has been adequately successful. The path forward regards continued innovation with targeted detection approaches while continuing efforts to assess the impact of population-based screening, hopefully toward ultimate endorsement on a broad national scale.
James K. Stoller (Mon,) studied this question.