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Snapshot
  • A 46-year-old male presents to the emergency department complaining of progressively worsening shortness of breath. On chest xray his lungs appear hyperinflated. On physical exam, he demonstrates rhonchi and wheezes, and the physician notes hepatomegaly. Laboratory findings are concerning for elevated liver enzymes. The FEV1/FVC ratio is decreased.
Introduction
  • Misfolded α1-antitrypsin (AAT) 
    • normally functions to inhibit elastase
    • without AAT, elastase is over active and destroys elastic tissues
      • results in panacinar empysema
    • deficiency results in accumlation in endoplasmic reticulum (ER) in hepatocytes
    • accumulation in liver results in cirrhosis   
  • AD (codominant) inheritance
    • normal genotype is MM
    • abnormal genoytpe is ZZ
    • uncertain presentation in heterozygotes (MZ)
Presentation
  • Symptoms
    • shortness of breath
    • cirrhosis
  • Physical exam
    • hyperinflated lungs (barrel-chest)
    • hepatomegaly
Evaluation
  • Spirometry 
    • decreased FEV1
    • decreased FEV1/FVC
    • increase in TLC
  • Biopsy
    • PAS+ globules in hepatocytes
Treatment
  • Medical management
    • intravenous pooled AAT
  • Surgical
    • liver transplant
 

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