Alpha-1-antitrypsin Deficiency

Question 1

What is the inheritance pattern for A1AT?

Answer 1

Autosomal codominant

Question 2

What are the main clinical characteristics of A1AT deficiency?

Answer 2

1. Lung disease (emphysema) in 20-50s
2. Liver disease incld. cirrhosis ~15%
3. Jaundice
4. Panniculitis