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
- aged 32-41 years
- male sex
- wheezing
- chest hyperinflation
- scleral icterus/jaundice
- asterixis
Risk factors
- famliy history of AAT deficiency
Diagnostic investigations
1st investigations to order
- plasma AAT level
- pulmonary function testing
- chest x-ray
- chest CT
- LFTs
Investigations to consider
- phenotyping
- genotyping
- gene sequencing
- exercise testing with ABG analysis
- alpha-fetoprotein
- liver ultrasound
- abdominal CT
- abdominal MRI
- liver biopsy
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
Declarações
GPC declares that he has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
Referências
Principais artigos
American Thoracic Society/European Respiratory Society Statement. Standards for the diagnosis and management of individuals with alpha 1-antitrypsin deficiency. Am J Respir Crit Care Med. 2003 Oct 1;168(7):818-900.Texto completo Resumo
Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis (Miami). 2016 Jun 6;3(3):668-82.Texto completo Resumo
Marciniuk DD, Hernandez P, Balter M, et al. Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline. Can Respir J. 2012;19:109-116.Texto completo Resumo
Hill AT, Sullivan AL, Chalmers JD, et al. British Thoracic Society Guideline for bronchiectasis in adults. Thorax. 2019 Jan;74(suppl 1):1-69.Texto completo Resumo
Fraughen DD, Ghosh AJ, Hobbs BD, et al. Augmentation therapy for severe alpha-1 antitrypsin deficiency improves survival and is decoupled from spirometric decline-A multinational registry analysis. Am J Respir Crit Care Med. 2023 Nov 1;208(9):964-74.Texto completo Resumo
Artigos de referência
Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
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