Alpha-1-antitrypsin Deficiency Flashcards
1
Q
What causes A1AT deficiency?
A
lack of protease inhibitor (Pi) normally produced by the liver
=> can’t make A1AT
2
Q
What is the normal role of A1AT?
A
To protect cells from enzymes such as neutrophil elastase.
3
Q
Describe what picture A1AT deficiency typically causes?
A
emphysema (i.e. COPD) picture in patients who are young and non-smokers.
4
Q
Chromosome involved in A1AT deficiency
A
14
5
Q
Inheritance pattern
A
Autosomal recessive
6
Q
Clinical features of A1AT deficiency
A
lungs: panacinar emphysema, most marked in lower lobes
liver: cirrhosis and hepatocellular carcinoma in adults, cholestasis in children
7
Q
Investigations if suspecting A1At deficiency
A
Spirometry
A1AT levels
8
Q
Management of A1AT deficiency
A
- no smoking
- bronchodilators
- physiotherapy
- IV alpha1-antitrypsin protein concentrates
- surgery: lung volume reduction OR lung transplantation
9
Q
A
