aetiology

Last reviewed 08/2021

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