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Aetiology

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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:

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