Aetiology

PBC is considered to be the model autoimmune disease where a variety of environmental toxins or infectious agents may trigger an immune response on a genetically susceptible individual (1).

A combination of multiple genetic factors and environmental factors affect the immune system and the liver

• genetic factors/susceptibility
  • the impact of genetic factors on PBC pathogenesis is stronger than that in nearly any other autoimmune disease
  • 1-6% of individuals with PBC have at least one family member manifesting disease
  • a concordance rate of 63% in identical twins is amongst the highest of all autoimmune diseases
  • the role of susceptibility genes in PBC is yet to be identified
    
    
• environmental factors
  • infectious and chemicals are thought to trigger PBC largely through molecular mimicry or modification of autoantigens
  • examples for infections
    • Novosphingobium aromaticivorans
    • Escherichia coli
    • Helicobacter spp.
  • examples for chemicals
    • foreign chemicals like xenobiotics (1)

Reference:

• (1) Selmi C et al. Primary biliary cirrhosis. Lancet. 2011 May 7;377(9777):1600-9