Alfa-1-antitrypsinmangel

Translated title of the contribution: Alpha-1-antitrypsin deficiency

Jesper Dichmann de Vos, Ole Hilberg, Michael Perch, Jens Ulrik Jensen, Jon Torgny Wilcke, Anders Løkke Ottesen

Research output: Contribution to journalJournal articleResearchpeer-review

Abstract

The subject of this review is alpha-1-antitrypsin deficiency (A1AD), which is a rare hereditary disease with great impact in adults, especially smokers, quality of life and longevity. Early diagnosis is crucial for treatment outcome. The primary care physician should refer patients younger than 50-years-old with COPD or emphysema, familiar accumulation of A1AD or liver cirrhosis of unknown cause. Most important treatment is smoking cessation, pulmonary rehabilitation and inhaled medication according to current guidelines. Substitution treatment with alpha-1-antitrypsin is now an option after its approval by the Danish medical council in January 2020.
Translated title of the contributionAlpha-1-antitrypsin deficiency
Original languageDanish
JournalUgeskrift for Laeger
ISSN0041-5782
Publication statusE-pub ahead of print - 26. Jul 2021

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