Alpha-1 Antitrypsin Deficiency

Question 1

What is Alpha-1 Antitrypsin Deficiency?

Answer 1

Alpha 1-antitrypsin deficiency is an inherited condition that affects the lungs, causing emphysema, and the liver, causing cirrhosis and hepatocellular carcinoma.

Without alpha 1-antitryptase there is less defence against neutrophil elastase, which destroy the alveoli. This process is exacerbated in smokers.

Question 2

What is the presentation Alpha-1 Antitrypsin Deficiency?

Answer 2

COPD presenting 30-40 years old

Neonatal jaundice at birth

Deranged LFTs in adults with no other identified cause

Question 3

What investigations would you do for suspected Alpha-1 Antitrypsin Deficiency?

Answer 3

The disease can be tested for with alpha 1 antitrypsin levels, genotyping or liver biopsy (evidence of Periodic acid Schiff positive globules).

Question 4

How would you manage Alpha-1 Antitrypsin Deficiency?

Answer 4

The condition has few management options and patients are advised to stop smoking.

Intravenous A1AT pooled from human donors is expensive and not widely used.

Liver transplant may be required in cases of decompensation.