Primary Biliary Cirrhosis (PBC)

PBC is an inflammatory chronic destruction of intrahepatic bile ducts. Anti-mitochondrial autoantibodies (AMA) are most commonly used as a diagnostic tool in identifying PBC. Autoimmune thyroid disease, SjS, RA and IBD can be present as part of an immune-mediated association which may precede hepatic disease. Inflammation is primarily driven by T-cells and the disease is generally found to affect woman commonly with elevated levels of total IgM. There is an overlap syndrome between both AIH and PBC allowing a course of treatment similar to AIH-type I to be administered.
Anti-mitochondrial antibodies (AMAs) react against the pyruvate dehydrogenase complex E3BP and PDC E1α. They also target 2-OADC family members PDC-E2, OGDC-E2 and BCOADC-E2.  PDC-E2 is the predominant reactant found in PBC patients. All of these targets play a role in oxidative phosphorylation particularly in the glycolytic pathway. All targets have a highly conserved region over species. ANAs have also been identified in more than 50% of patients with gp210 antibodies of particular diagnostic value. Sp100 and nucleoporin p62 (NUP62) may also be helpful in the diagnosis.


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