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Alpha-1 antitrypsin deficiency

Last reviewed: 21 Oct 2024
Last updated: 24 Oct 2024

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
Full details

Other diagnostic factors

  • age 32-41
  • male sex
  • wheezing
  • chest hyperinflation
  • scleral icterus/jaundice
  • asterixis
Full details

Risk factors

  • family history of AAT deficiency
Full details

Diagnostic tests

1st tests to order

  • plasma AAT level
  • pulmonary function testing
  • chest x-ray
  • chest CT
  • LFTs
Full details

Tests to consider

  • phenotyping
  • genotyping
  • gene sequencing
  • exercise testing with ABG analysis
  • alpha-fetoprotein
  • liver ultrasound
  • abdominal CT
  • abdominal MRI
Full details

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 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.

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