Detecting Alpha-1 Antitrypsin Deficiency: Current State, Impediments, Opportunities, and Future Directions

Alpha-1 antitrypsin deficiency (AATD) is an underrecognized condition with only a small minority of affected individuals diagnosed, 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 that endorse testing, a sense of “therapeutic nihilism” among some physicians (i.e., the mistaken impression 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), and population-based and newborn screening pilot programs. The latter is 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 underrecognition of AATD persists with stubbornly long, multiyear diagnostic delay intervals, none of the detection strategies deployed to date have been adequate. The path forward regards continued innovation with targeted detection approaches while efforts continue to assess the impact of population-based screening, hopefully toward ultimate endorsement on a broad national scale.

This content is free for users with an active ATS Membership.

Target Audience

Pulmonologists, critical care specialists, translational researchers, and clinicians

Learning Objectives

At the conclusion of this activity, learners should be able to:

  • Recognize the prevalence of severe alpha-1 antitrypsin deficiency (AATD)
  • Discuss the consequences of underrecognition or delayed recognition of AATD
  • Describe different approaches to enhance recognition of AATD
Course summary
Available credit: 
  • 1.00 AMA PRA Category 1 Credit(s)™
    The American Thoracic Society designates this for a maximum of 1.00 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
  • 1.00 Participation
Publication Date: 
12/30/2024
Credit Expires: 
01/01/2027
Cost:
$25.00
Rating: 
0

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Accreditation Statement

The American Thoracic Society is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

Disclosure Declaration

Article Authorship Disclosures (as submitted to the ATS prior to article publication date)

James K. Stoller, M.D., M.S. (Cleveland Clinic Foundation, Cleveland, OH) reported grants or contracts from Takeda; Royalties from UpToDate as a section editor and author; Consulting fees from Takeda, Vertex, Korro, 23 and Me, 4DMT, inhibRx/Sanofi, and UpToDate. Additionally Dr. Stoller serves as a consultant for Sanofi regarding alpha-1 antitrypsin defiency. He is on a Data Safety Monitoring or Advisory Board at Takeda. Dr. Stoller reported a pro bono leadership or fiduciary role with a Medical and Scientific Advisory Committee, specifically the Alpha-1 Foundation. Finally, he has received a research grant from Takeda to study diagnostic strategies for alpha-1 antitrypsin deficiency using artificial intelligence.

Off-Label Usage Disclosure

None

Disclosures of AnnalsATS CME Planners

The Annals of the American Thoracic Society (AnnalsATS) original research, commentaries, reviews, and educational content of interest to clinicians and clinical investigators in pediatric and adult pulmonary and sleep medicine and medical critical care. The scope of the journal encompasses content that is applicable to clinical practice, the formative and continuing education of clinical specialists, and the advancement of public health.

The publication of articles that meet these goals by itself is only one step in a multi-step process for the translation of evidence-based improvements in are to clinical practice. Testing for CME credit is designed to function as a next step in the process. This is accomplished through a series of questions written by the author(s) to test that readers have the tools needed to translate recommendations for diagnostic and therapeutic clinical care into clinical practice. Members of the AnnalsATS editorial board review these questions and edit these questions for clarity, educational content, and the quality of the evidence supporting the response to the question.

AnnalsATS CME Planners

Margaret M. Hayes, M.D.
Harvard Medical School, Boston, MA, USA
Dr. Hayes reported receiving payments as an author for a chapter on heliox for UpToDate.
 
Caroline Okorie, M.D., M.P.H.
Stanford University School of Medicine, Stanford, CA, USA
Dr. Okorie reported no financial relationships with ineligible companies.

All relevant financial relationships have been reviewed and mitigated.

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Available Credit

  • 1.00 AMA PRA Category 1 Credit(s)™
    The American Thoracic Society designates this for a maximum of 1.00 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
  • 1.00 Participation

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