Alpha-1 antitrypsin deficiency Flashcards
What is alpha-1 antitrypsin deficiency?
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.
Presentation of alpha-1 antitrypsin deficiency?
COPD presenting 30-40 years old
Neonatal jaundice at birth
Deranged LFTs in adults with no other identified cause
Investigations in alpha-1 antitrypsin deficiency?
The disease can be tested for with alpha-1 antitrypsin levels, genotyping or liver biopsy (evidence of Periodic acid Schiff positive globules).
Management of alpha-1 antitrypsin deficiency
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.
