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Alfa-1-antitrypsinmangel

Forfatter(e)

Jesper Dichmann de Vos1, Ole Hilberg1, 2, Michael Perch3, 4, Jens-Ulrik Jensen5, Jon Torgny Wilcke5 & Anders Løkke1, 2

1) Medicinsk Afdeling, Sygehus Lillebælt, Vejle, 2) Institut for Regional Sundhedsforskning, Det Sundhedsvidenskabelige Fakultet, Syddansk Universitet, 3) Sektion for Lungetransplantation, Hjertecentret, Københavns Universitetshospital – Rigshospitalet, 4) Institut for Klinisk Medicin, Det Sundhedsvidenskabelige Fakultet, Københavns Universitet, 5) Lungemedicinsk Afdeling, Københavns Universitetshospital – Herlev-Gentofte Hospital

Ugeskr Læger 2021;183:V02210150

Reference: 
UgeskrLæger 2021;183:V02210150
Alpha-1-antitrypsin deficiency

Jesper Dichmann de Vos, Ole Hillberg, Michael Perch, Jens-Ulrik Jensen, Jon Torgny Wilcke & Anders Løkke

Ugeskr Læger 2021;183:V02210150

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.

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