Cholangiocarcinoma in wilson’s disease – A case report

Dániel Németh, Anikó Folhoffer, Gábor Smuk, Béla Kajtár, Tamás Tornóczky, Ferenc Szalay

Research output: Contribution to journalArticle


It has been suggested that hepatobiliary carcinomas are less frequent in Wilson’s disease (WD) than in liver diseases of other etiology. However, the protective role of copper against malignancies is debated. Only a few cases of cholangiocarcinoma (CCC) in WD have been published. Here we report on a case of a 47-year-old male H1069Q homozygous, Kayser-Fleischer ring positive WD patient with a low ceruloplasmin level who was followed up and treated with chelating agents throughout nine years. The patient presented with neurological symptoms and liver cirrhosis at diagnosis. Clinical symptoms regressed after the treatment initiation. Rapidly developed tumour metastases were found in the bones, lung and liver (without jaundice). Autopsy revealed cholangiocarcinoma as the primary tumour confirmed by strong CK7 positivity and glypican-3 negativity. The curiosity of the presented case is the very rapid development of CCC despite continuous chelating agent therapy.

Original languageEnglish
Pages (from-to)305-308
Number of pages4
JournalJournal of Gastrointestinal and Liver Diseases
Issue number3
Publication statusPublished - Sep 2017


  • Cholangiocarcinoma
  • Copper chelating agents
  • Hepatolenticular degeneration
  • Liver cirrhosis
  • Wilson’s disease

ASJC Scopus subject areas

  • Gastroenterology

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