Alpha-1-antitrypsin Deficiency

Question 1

What is A1AT deficiency?

Answer 1

An inherited disorder affecting the liver and lungs

Question 2

What is serpinopathy?

Answer 2

Another word for A1AT deficiency as A1AT is a serine protease inhibitor

Question 3

What does A1AT cause?

Answer 3

Emphysema and cirrhosis

Question 4

Are children or adults more likely to get liver disease?

Answer 4

Children

Question 5

Are children or adults more likely to get emphysema?

Answer 5

Adults

Question 6

What causes emphysema?

Answer 6

Tissue damage by neutrophil elastase

Question 7

How might a patient with A1AT deficiency present?

Answer 7

Dyspnoea and other emphysema symptoms, cirrhosis, cholestatic jaundice if child

Question 8

What blood test would you do?

Answer 8

Serum A1AT levels

Question 9

What would lung function tests show?

Answer 9

Reduced FEV1 with obstructive pattern

Question 10

What liver tests would you do?

Answer 10

Liver function tests

Question 11

What imaging would you do?

Answer 11

CXR or chest CT

Question 12

What are differential diagnoses?

Answer 12

Asthma, COPD

Question 13

What general management would you start?

Answer 13

Smoking cessation, vaccination for lung infections and hepatitis

Question 14

What options are there for lung manifestations?

Answer 14

Treat emphysema normally, A1AT augmentation, lung transplant

Question 15

What options are there for liver manifestations?

Answer 15

Treat liver disease normally, alcohol avoidance, liver transplant