Alpha-1-antitrypsin deficiency Flashcards

1
Q

What 2 organs are affected by alpha-1-antitrypsin deficiency?

A

Liver - cirrhosis

Lungs - bronchiectasis and emphysema

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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

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