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Diagnosing α1-antitrypsin deficiency: how to improve the current algorithm.

Noel G McElvaney¹

¹Respiratory Research Division, Dept of Medicine, Royal College of Surgeons in Ireland, Education and Research Centre, Beaumont Hospital, Dublin, Ireland gmcelvaney@rcsi.ie.

European Respiratory Review : an Official Journal of the European Respiratory Society

|March 2, 2015

Summary

Alpha-1 antitrypsin deficiency (AATD) diagnosis has improved but remains underdiagnosed, leading to delayed treatment. Early diagnosis of AATD is crucial for timely intervention and better patient outcomes.

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Area of Science:

Pulmonology
Genetics
Internal Medicine

Background:

Alpha-1 antitrypsin deficiency (AATD) diagnosis has improved due to increased awareness and updated guidelines.
Despite improvements, AATD remains significantly underdiagnosed, contributing to its status as a leading cause of lung transplantation.
A notable delay exists between AATD diagnosis and the initiation of treatment, impacting patient management.

Purpose of the Study:

To highlight the persistent underdiagnosis of AATD.
To emphasize the need for improved diagnostic strategies and timely treatment initiation.
To underscore the importance of identifying high-risk populations for AATD screening.

Main Methods:

Review of diagnostic recommendations from the American Thoracic Society (ATS)/European Respiratory Society (ERS).
Identification of high-risk patient groups recommended for AATD testing.
Discussion of laboratory diagnostic methods including α1-antitrypsin level measurement, phenotyping, and genotyping.

Main Results:

ATS/ERS guidelines recommend testing in specific high-risk groups, including COPD patients, nonresponsive asthmatics, and individuals with unexplained liver disease or bronchiectasis.
Serum α1-antitrypsin levels detect deficiency but do not distinguish genetic subtypes.
Phenotyping and genotyping are essential for identifying rare genetic variants and improving diagnostic accuracy.

Conclusions:

Accurate and timely diagnosis of AATD is critical for effective patient management.
Early intervention, including smoking cessation and potential augmentation therapy, can improve outcomes.
Enhanced diagnostic approaches are necessary to overcome the current underdiagnosis and treatment delays in AATD.