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[Alpha-1-antitrypsin deficiency]

Jesper Dichmann de Vos, Ole Hillberg1, Michael Perch

  • 1ole.hilberg@rsyd.dk.

Ugeskrift for Laeger
|August 6, 2021
PubMed

Insights

Alpha-1-antitrypsin deficiency (A1AD) is a rare genetic condition affecting adults, particularly smokers. Early diagnosis and interventions like smoking cessation and A1AT augmentation therapy improve outcomes.

Area of Science:

  • Pulmonology and Genetics

Background:

  • Alpha-1-antitrypsin deficiency (A1AD) is an inherited disorder impacting lung and liver health.
  • It significantly affects quality of life and longevity, especially in smokers.
  • Early diagnosis is critical for effective management and improved patient outcomes.

Purpose of the Study:

  • To review the clinical impact of A1AD in adults.
  • To highlight the importance of early diagnosis and referral criteria.
  • To outline current and emerging treatment options for A1AD.

Main Methods:

  • Literature review focusing on A1AD diagnosis, clinical presentation, and management.
  • Analysis of current treatment guidelines and recent therapeutic advancements.

Main Results:

  • A1AD presents significant risks, particularly for smokers, impacting pulmonary and hepatic health.
  • Key referral indicators include early-onset COPD/emphysema, family history of A1AD, or unexplained liver cirrhosis.
  • Standard care involves smoking cessation, pulmonary rehabilitation, and inhaled medications.

Conclusions:

  • Prompt identification of A1AD is essential for mitigating disease progression.
  • Smoking cessation remains the cornerstone of A1AD management.
  • Augmentation therapy with alpha-1-antitrypsin is a viable treatment option following its recent approval.

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