Alpha-1-antitrypsin deficiency

Question 1

pathology?

Answer 1

AIAT inhibits neutrophil elastase & protects tissues –> deficiency in this protein –> break down of connective tissue –> connective tissue damage in liver and lungs

Question 2

Presentation?

Answer 2

liver cirrhosis after 50

&

pulmonary basal emphysema after 30

Question 3

Ix?

Answer 3

• low serum A1AT
• liver biopsy shows
  
  • cirrhosis
  • acid-schiff-positive staining globules
• genetic testing
• CT thorax

Question 4

Mx?

Answer 4

conservative:

• stop smoking - dramatically accelerates emphysema
• symptomatic mx
• monitoring for complications

organ transplant for end stage liver / lung disease