Alpha 1 antitrypsin deficiency

Question 1

What is alpha 1 antitrypsin deficiency?

Answer 1

Deficiency of alpha 1 antitrypsin (protease enzyme inhibitor) resulting in excess protease enzymes which attack the liver and lung tissue

Question 2

A1AT deficiency leads to…

Answer 2

• Liver disease, e.g. cirrhosis

- Lung disease, e.g. COPD

Question 3

Which blood test is used to screen for A1AT deficiency?

Answer 3

Serum A1AT levels

Question 4

Aside from blood tests, which other tests can be used to confirm the diagnosis of A1AT deficiency?

Answer 4

• Liver biopsy, showing cirrhosis and “acid-Schiff-positive staining globules”
• High resolution CT thorax
• Genetic testing

Question 5

Describe the management of A1AT deficiency

Answer 5

Conservative:

• Stop smoking (as this accelerates emphysema)
• Symptomatic management