Alpha-1-Antitrypsin Deficiency

Question 1

Definition and pathophysiology of alpha-1-antitrypsin deficiency

Answer 1

• AR inherited deficiency of protease inhibitor alpha-1-antitrypsin
• eads to excess of protease enzymes that attack the liver and lung tissue
• Elastase, secreted by neutrophils, digests connective tissues - alpha-1-antitrypsin inhibits it

Question 2

Diagnosis and management of alpha-1-antitrypsin deficiency

Answer 2

• Diagnosis:
  
  • Low serum alpha-1-antitrypsin
  • Liver biopsy showing cirrhosis and acid-Schiff-positive staining globules
  • Genetic testing
  • HRCT for pulmonary emphysema
• Management:
  
  • Stop smoking
  • Symptomatic management
  • Organ transplant
  • Monitoring for complications