Alpha-1-antitrypsin deficiency Flashcards
1
Q
What 2 organs are affected by alpha-1-antitrypsin deficiency?
A
Liver - cirrhosis
Lungs - bronchiectasis and emphysema
2
Q
How is alpha-1-antitrypsin diagnosed?
A
Low serum alpha-1-antitrypsin
Liver biopsy - shows cirrhosis and acid-Schiff-positive staining globules
Genetic testing for A1AT gene
High resolution CT thorax - to diagnose bronchiectasis and emphysema