α1-antitrypsin deficiency (A1AD)


Introduction

https://www.youtube.com/watch?v=xNqg_DktFUQ

 


Clinical Features

  • LUNGS:
    • COPD:
      • Panacinar emphysema
      • Chronic bronchitis
  • LIVER:
    • Cirrhosis
994px-conditions_associated_with_alpha-1_antitrypsin_deficiency
Conditions associated with Alpha-1 Antitrypsin Deficiency, occurring due to paucity of AAT in circulation allowing uninhibited inflammation in lungs, and accumulation of mutated AAT in the liver | By User: Nucleicmilkshake and User:Mikael Häggström – http://commons.wikimedia.org/wiki/File:Female_shadow_with_organs.png, CC0, https://commons.wikimedia.org/w/index.php?curid=20029030

Diagnosis

Investigations

  • Pulmonary function test
  • BLOOD:
    • α1AT levels
  • Liver function test (LFT)

Imaging

  • Chest X-ray
  • CT scan

Histopathology (Biopsy)

  • Liver biopsy:
    • Periodic acid & shift positive (PAS+)
    • Diastase resistant
640px-alpha-1_antitrypsin_deficiency-pas_diastase
Photomicrograph of a liver biopsy from a patient with alpha-1 antitrypsin deficiency. The PAS with diastase stain shows the diastase-resistant pink globules that are characteristic of this disease. | By Jerad M Gardner, MD – Own work, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=15124956

Management

  • Augmentation therapy
    • Replace α1AT in blood
  • Lungs (Emphysema):
    • Supplemental oxygen
  • Liver (Cirrhosis):
    • Management of cirrhosis

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