Summary
Definition
History and exam
Key diagnostic factors
- productive cough
- shortness of breath on exertion
- current cigarette smoker
- exposure to gas, fumes, and/or dust
- hepatomegaly
- ascites
- confusion
Other diagnostic factors
- age 32-41
- male sex
- wheezing
- chest hyperinflation
- scleral icterus/jaundice
- asterixis
Risk factors
- family history of AAT deficiency
Diagnostic tests
1st tests to order
- plasma AAT level
- pulmonary function testing
- chest x-ray
- chest CT
- LFTs
Tests to consider
- phenotyping
- genotyping
- gene sequencing
- exercise testing with ABG analysis
- alpha-fetoprotein
- liver ultrasound
- abdominal CT
- abdominal MRI
Treatment algorithm
low plasma AAT
Contributors
Authors
D. Kyle Hogarth, MD, FCCP
Professor
Pulmonary and Critical Care
University of Chicago
Chicago
IL
Disclosures
DKH is a consultant for Grifols, Takeda, and Wave Life Sciences, and gives lectures for Takeda; Grifols and Takeda are both makers of alpha-1 antitrypsin related products. DKH serves on the MASEK committee for the Alpha One Foundation, and is part of the A1BC study sponsored by the National Institutes of Health and the Alpha One Foundation. DKH is an author of a number of references cited in this topic.
Acknowledgements
Dr D. Kyle Hogarth would like to gratefully acknowledge Dr Paul J. Hutchison, a previous contributor to this topic.
Disclosures
PJH declares that he has no competing interests.
Peer reviewers
Jane Deng, MD
Assistant Professor of Medicine
David Geffen School of Medicine at UCLA
Los Angeles
CA
Disclosures
JD declares that she has no competing interests.
Franck Rahaghi, MD
Chair of Quality
Director
Pulmonary Hypertension Clinic
Head
Pulmonary Education and Rehabilitation
Department of Pulmonary, Allergy and Critical Care
Cleveland Clinic Florida
Weston
FL
Disclosures
FR has been a consultant and speaker and has received funding from Baxter Healthcare and CSL Behring.
Graeme P. Currie, MD, FRCP
Consultant Chest Physician
Aberdeen Royal Infirmary
Aberdeen
UK
Disclosures
GPC declares that he has no competing interests.
Differentials
- Asthma
- COPD
- Bronchiectasis
More DifferentialsGuidelines
- Global strategy for diagnosis, management, and prevention of COPD
- British Thoracic Society guideline for bronchiectasis in adults
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