Gastroenterology 7 - Alpha 1 Antitrypsin Deficiency

Question 1

define alpha 1 antitrypsin deficiency

Answer 1

caused by deficiency of protease inhibitor

fails to protect tissues from neutrophil elastase

autosomal recessive

Question 2

2 main tissues affects in A1AT and when in life

Answer 2

lungs - emphysema from 30 years onwards

liver - cirrhosis from 50 years onwards

Question 3

4 tests involved in diagnosing A1AT

Answer 3

serum alpha 1 antitrypsin
liver biopsy + acid Schiff positive staining globules
genetic screening
high res CT thorax for emphysema

Question 4

4 aspects of management of A1AT

Answer 4

stop smoking
manage symptoms
monitor complications (lung function + liver cancer)
organ transplant last port of call in end stage failures