Alpha-1 antitrypsin deficiency (AIAT)

Question 1

what is it?

Answer 1

lack of protease inhibitor produced by liver

A1AT role- to protect cells from enzymes such as neutrophil elastase

Question 2

cause?

Answer 2

autosomal recessive inheritence / co-dominant fashion

gene located on chromosome 14

Question 3

clinical features?

Answer 3

young and non-smokers
lungs- panacinar emphysema (COPD), most marked in lower lobes
liver-
cirrhosis and heaptocellular carcinoma in adults
cholestasis in children

Question 4

investigations?

Answer 4

A1AT concentrations

spirometry- obstructive picture

Question 5

management?

Answer 5

• no smoking
• supportive: bronchodilators, physiotherapy
• intravenous alpha1-antitrypsin protein concentrates
• surgery: lung volume reduction surgery, lung transplantation