In the course of a ‘well-woman’ check offered by her employer, a 50 year old woman was found to have an antinuclear antibody with a multiple nuclear dot pattern and mildly abnormal liver function tests (LFTs). What is the most likely diagnosis?
ExplanationThe commonest autoantibody in PBC is antimitochondrial antibody (AMA; present in over 95% of patients). A minority of patients (around 20%) have characteristic antinuclear antibodies that are reactive with either nuclear dot or nuclear rim antibodies. Where present, these carry the same degree of diagnostic value as AMA (and may suggest a worse prognosis). Both AIH and lupus are associated with antinuclear antibodies but with a diffuse nuclear staining pattern. Low-titre diffuse nuclear antibodies are seen frequently in NASH. The ‘characteristic’ autoantibody in PSC is perinuclear antineutrophil cytoplasmic antibody (pANCA), although this is seen in only around 30% of patients.