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Deficiencia de alfa-1-antitripsina

Última revisión: 20 Aug 2025
Última actualización: 15 Apr 2025

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
Todos los datos

Otros factores de diagnóstico

  • 32-41 años de edad
  • sexo masculino
  • sibilancia
  • tórax distendido
  • ictericia conjuntival/ictericia
  • asterixis
Todos los datos

Factores de riesgo

  • antecedentes familiares de déficit de AAT
Todos los datos

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)
Todos los datos

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
Todos los datos

Algoritmo de tratamiento

En curso

alfa-1-antitripsina (AAT) plasmática baja

Colaboradores

Autores

D. Kyle Hogarth, MD, FCCP
D. Kyle Hogarth

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

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

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.
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