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Erdheim-Chester disease associated with an aggressive form of sclerosing cholangitis
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Erdheim-Chester disease associated with an aggressive form of sclerosing cholangitis
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Journal Article
Erdheim-Chester disease associated with an aggressive form of sclerosing cholangitis
2023
Overview
Erdheim-Chester disease (ECD) is a rare histiocytic disorder recently recognized as a neoplasm due to the discovery of activating MAPK pathway mutations. Hepatic involvement by ECD is extremely rare. The absence of associated inflammatory bowel disease and anti-neutrophil cytoplasmic antibody, as well as the rapidity of disease progression, makes us consider the possibility of hepatic involvement by ECD or an overlap syndrome. We want to highlight that negative histopathology should not delay the diagnosis of ECD as effective and potentially lifesaving therapies with BRAF or MEK pathway inhibitors are now available for these patients.
