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Autoimmune liver diseases include autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC) and primary sclerosing cholangitis (PSC) and overlap syndromes among these disorders. In approximately 98% of AIH patients, antinuclear antibodies (ANA) can be found either in isolation or in combination with antibodies against:
PBC is characterized by the presence of antimitochondrial anti-M2 antibodies, which target the antigen alpha-ketoacid dehydrogenase complex of the inner mitochondrial membrane. The antibodies are detectable in 95% of patients. In the rare anti-M2-negative PBC patients, other PBC-specific antibodies can usually be detected (eg. antibodies against “nuclear dots” (anti-SP100), centromere or nuclear membrane). The increase of serum IgM globulins is a characteristic of PBC.
In PSC, although antibodies against granulocytes (pANCA) are described these are only present in about 70% of PSC-positive patients and - depending on the method - are even detectable in autoimmune hepatitis and vasculitis. The diagnosis must therefore focus primarily on the detection of intra-or extrahepatic bile duct changes by ERCP.
The detection of specific autoantibody profiles in patients with an unclear chronic liver disease diagnosis is therefore useful for the early diagnosis of an autoimmune process, and often also allows the discrimination between infectious and toxic processes.