Resumen
Definición
Anamnesis y examen
Principales factores de diagnóstico
- tos productiva
- disnea de esfuerzo
- fumador actual
- exposición a gas, emanaciones y/o polvo
- hepatomegalia
- ascitis
- confusión
Otros factores de diagnóstico
- 32-41 años de edad
- sexo masculino
- sibilancia
- tórax distendido
- ictericia conjuntival/ictericia
- asterixis
Factores de riesgo
- antecedentes familiares de déficit de AAT
Pruebas diagnósticas
Primeras pruebas diagnósticas para solicitar
- nivel plasmático de alfa-1-antitripsina (AAT)
- pruebas funcionales respiratorias
- radiografía de tórax
- tomografía computarizada (TC) de tórax
- pruebas de función hepática (PFH)
Pruebas diagnósticas que deben considerarse
- fenotipado
- genotipado
- secuencia de genes
- pruebas de ejercicio con análisis de gasometría arterial (GSA)
- alfafetoproteína
- ecografía hepática
- tomografía computarizada (TC) del abdomen
- resonancia magnética (IRM) abdominal
- biopsia hepática
Algoritmo de tratamiento
alfa-1-antitripsina (AAT) plasmática baja
Colaboradores
Autores
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.
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.
References
Key articles
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.Full text Abstract
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.Full text Abstract
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.Full text Abstract
Hill AT, Sullivan AL, Chalmers JD, et al. British Thoracic Society Guideline for bronchiectasis in adults. Thorax. 2019 Jan;74(suppl 1):1-69.Full text Abstract
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.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Asma
- Enfermedad pulmonar obstructiva crónica (EPOC)
- Bronquiectasias
More DifferentialsGuidelines
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More GuidelinesPatient information
EPOC: preguntas para formularle al médico
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