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α1 Antitrypsin deficiency: current best practice in testing and augmentation therapy.
Michael A Campos1, Jorge Lascano2
1Associate Professor of Medicine, Division of Pulmonary, Allergy, Critical Care and Sleep Medicine, University of Miami School of Medicine, PO Box 016960 (R-47), Miami, FL 33101, USA mcampos1@med.miami.edu.
Therapeutic Advances in Respiratory Disease
|July 12, 2014
Summary
Alpha-1 antitrypsin deficiency (AATD) is underdiagnosed despite increasing the risk of COPD and liver disease. Early detection through recommended testing and prompt augmentation therapy can slow disease progression.
Area of Science:
- Pulmonology
- Genetics
- Hepatology
Background:
- Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that significantly increases the risk of developing chronic obstructive pulmonary disease (COPD) and liver disease.
- Despite not being a rare condition, AATD is frequently underdiagnosed due to a lack of awareness among healthcare providers managing at-risk populations.
Purpose of the Study:
- To highlight the importance of early detection and diagnosis of AATD.
- To review current testing recommendations and therapeutic strategies for AATD.
- To discuss the role of augmentation therapy in managing AATD-related lung disease.
Main Methods:
- Review of published testing recommendations for AATD.
- Summary of diagnostic approaches including AAT levels, phenotyping, and genotyping using dried blood spot kits.
- Analysis of evidence supporting AAT replacement (augmentation) therapy.
Main Results:
- Testing is strongly recommended for individuals with COPD, cryptogenic liver cirrhosis, incomplete airflow obstruction, and affected individuals' siblings.
- Augmentation therapy, the only FDA-approved treatment, shows promise in slowing lung function decline and emphysema progression.
- Augmentation therapy also influences systemic inflammation and elastin degradation markers.
Conclusions:
- Early identification of AATD is critical for implementing preventive measures and initiating timely therapy.
- Augmentation therapy offers a beneficial effect in managing AATD-associated lung conditions.
- Future treatment approaches may become more individualized based on emerging biomarkers and disease sub-phenotypes.
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