Alpha-1 antitrypsin deficiency

Last reviewed: 21 Apr 2022
Last updated: 18 Mar 2022

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
More key diagnostic factors

Other diagnostic factors

  • age 32-41
  • male sex
  • wheezing
  • chest hyperinflation
  • scleral icterus/jaundice
  • asterixis
Other diagnostic factors

Risk factors

  • famliy history of AAT deficiency
More risk factors

Diagnostic investigations

1st investigations to order

  • plasma AAT level
  • pulmonary function testing
  • chest x-ray
  • chest CT
  • LFTs
More 1st investigations to order

Investigations to consider

  • phenotyping
  • genotyping
  • gene sequencing
  • exercise testing with ABG analysis
  • alpha-fetoprotein
  • liver ultrasound
  • abdominal CT
More investigations to consider

Treatment algorithm

ONGOING

low plasma AAT

Contributors

Authors

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

Professor

Pulmonary and Critical Care

University of Chicago

Chicago

IL

Disclosures

DKH has given lectures for Grifols and Takeda, makers of alpha-1 antitrypsin related products. He serves on the data safety and monitoring board for a study conducted by InhibRx and is the principal investigator for studies sponsored by Vertex and Takeda. 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.

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