Alpha-1-antitrypsin deficiency A1AT

• Facts:
  AD disorder, caused by deficiency of alpha-1-antitrypsin
  
• History / PE:
  SOB
  Wheezing
  Hepatomegaly
  Gynecomastia
  
• Diagnosis:
  Panacinar emphysema
  Periodic acid-Schiff (PAS) positive granules
  Measurement of serum A1AT levels
• Complications:
  Empyhsema (MCC of death)
  Chronic bronchitis
  Brochiectasis
• Notes:
  Centriacinar emphysema ( COPD )
  
  A1AT is a serum protein that inhibits several proteolytic enzymes (eg. pancreatic trypsin, neutrophil elastase) and is also an acute phase reactant
• Associated With:
  Cirrhosis
  Primary sclerosing cholangitis