Last reviewed: November 2017
Last updated: August  2016

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

  • age 32-41
  • male gender
  • wheezing
  • chest hyperinflation
  • scleral icterus/jaundice
  • asterixis

Risk factors

  • FHx of AAT deficiency

Diagnostic investigations

1st investigations to order

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

Investigations to consider

  • phenotyping
  • genotyping
  • exercise testing with ABG analysis
  • alpha-fetoprotein
  • abdominal CT
Full details

Treatment algorithm

ONGOING

Contributors

Authors VIEW ALL

D. Kyle Hogarth

Associate Professor

Pulmonary and Critical Care

University of Chicago

Chicago

IL

Disclosures

DKH has served as a consultant for CSL Behring: manufacturer of AAT replacement therapy. Has lectured for CSL Behring, Grifols, and Shire: manufacturers of AAT replacement therapy. Research sponsored by Shire: manufacturer of AAT replacement therapy.

Dr D. Kyle Hogarth would like to gratefully acknowledge Dr Paul J. Hutchison, a previous contributor to this monograph. PJH declares that he has no competing interests.

Peer reviewers VIEW ALL

Assistant Professor of Medicine

David Geffen School of Medicine at UCLA

Los Angeles

CA

Disclosures

JD declares that she has no competing interests.

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.

Consultant Chest Physician

Aberdeen Royal Infirmary

Aberdeen

UK

Disclosures

GPC declares that he has no competing interests.

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