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Testing Patterns and Disparities for Alpha-1 Antitrypsin Deficiency.

Leonard Riley¹, Aryaman Sriram², Mark Brantly³

¹Department of Internal Medicine, Division of Pulmonary, Critical Care, and Sleep Medicine, Kansas City Veterans Affairs Medical Center, Mo.

The American Journal of Medicine

|July 14, 2023

Summary

This summary is machine-generated.

Testing for Alpha-1 antitrypsin deficiency remains low, with disparities observed. White individuals and those with both lung and liver disease were more likely to be tested, unlike older patients, non-White individuals, and males with lung disease.

Keywords:

Alpha-1 antitrypsin Alpha-1 antitrypsin deficiency Testing disparities

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Area of Science:

Genetics
Pulmonology
Hepatology

Background:

Alpha-1 antitrypsin deficiency is an underdiagnosed genetic condition causing chronic lung and liver disease.
Current testing frequency and disparities for Alpha-1 antitrypsin deficiency are not well understood.

Purpose of the Study:

To investigate the testing frequency and identify disparities in Alpha-1 antitrypsin deficiency testing.
To analyze trends in Alpha-1 antitrypsin deficiency testing over a decade.

Main Methods:

Retrospective cohort study of patients with newly diagnosed COPD and liver disease (2012-2021).
Analysis of incidence, prevalence, and factors associated with Alpha-1 antitrypsin testing using multivariable logistic regression.
Correlation analysis between tobacco use and Alpha-1 antitrypsin testing.

Main Results:

Only 5.6% of 75,810 patients with newly diagnosed COPD or liver disease were tested for Alpha-1 antitrypsin deficiency.
Annual testing incidence increased from 2.8% (COPD) and 5.4% (liver disease) in 2012 to 4.1% and 11.3% in 2021.
White race and concomitant COPD and liver disease favored testing; older age, non-White race, tobacco use, and male sex with COPD were associated with lower testing rates.

Conclusions:

Despite recommendations, Alpha-1 antitrypsin deficiency testing uptake remains low.
Significant disparities in testing exist based on race, disease comorbidity, age, sex, and tobacco use.
Further efforts are needed to improve equitable and widespread Alpha-1 antitrypsin deficiency testing.