Alpha-1 Antitrypsin Deficiency

Genetic disorder that may result in lung disease or liver disease

Aetiology

  • Autosomal recessive disorder in the A1AT genes

Pathophysiology

  • A1AT is produced by the liver, protects the lungs from neutrophil elastase (+ emphysema)
  • A1AT accumulates in the liver → cell damage and fibrosis
  • Causes emphysema and cirrhosis

Clinical presentation

  • Pulmonary symptoms - cough, wheeze, dyspnoea
  • Hepatic symptoms - hepatitis, cirrhosis

Investigations

  • Plasma AAT level
  • PFTs
  • CXR
  • CT chest

Management

  • Avoid smoking
  • Symptomatic management e.g. bronchodilators, pulmonary rehab