Abstract
Primary biliary cirrhosis (PBC) is an autoimmune liver disease characterized by destruction of intrahepatic bile ducts causing fibrosis and eventually cirrhosis of the liver. Clinically, PBC is characterized by elevated liver enzymes in a cholestatic pattern and in association with anti-mitochondrial antibodies (AMA or M2). PBC and scleroderma occur together more frequently than would be expected by chance alone, but the onset of these two conditions can be separated by several years with PBC either preceding or following the onset of scleroderma. In scleroderma, PBC is associated with the presence of anticentromere antibodies (ACA) and limited skin involvement. An unexplained and persistent elevation in serum alkaline phosphatase in a scleroderma patient should raise the possibility of PBC even before typical symptoms of fatigue, pruritus, and jaundice occur. Workup should include liver ultrasound to exclude other causes of cholestasis, antimitochondrial antibody (AMA) testing, and, in some cases, a liver biopsy. Early treatment is important because therapy can delay the progression to cirrhosis in many if not most individuals. Similarly, scleroderma should be considered in PBC patients and workup for scleroderma should be done to identify the presence of Raynaud’s phenomenon and other scleroderma clinical features, as well as antinuclear antibody (ANA) testing. Positive results should prompt a referral for rheumatologic evaluation. Especially in AMA-negative cases in which PBC is suspected, other PBC-specific antibodies can be helpful in early detection; these include sp100 and gp210 which are commercially available by specific request.
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Mayes, M.D., Assassi, S. (2011). Sclerodactyly and Raynaud’s Phenomenon in a Patient Who Has Primary Biliary Cirrhosis. In: Silver, R., Denton, C. (eds) Case Studies in Systemic Sclerosis. Springer, London. https://doi.org/10.1007/978-0-85729-641-2_35
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DOI: https://doi.org/10.1007/978-0-85729-641-2_35
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