Cholangiocarcinoma in wilson’s disease – A case report

Dániel Németh, Anikó Folhoffer, Gábor Smuk, Béla Kajtár, T. Tornóczky, F. Szalay

Research output: Article

Abstract

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
Volume26
Issue number3
DOIs
Publication statusPublished - szept. 1 2017

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Hepatolenticular Degeneration
Cholangiocarcinoma
Chelating Agents
Glypicans
Neoplasms
Exploratory Behavior
Ceruloplasmin
Jaundice
Liver Cirrhosis
Liver Diseases
Copper
Autopsy
Neoplasm Metastasis
Carcinoma
Bone and Bones
Lung
Liver
Therapeutics

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Cholangiocarcinoma in wilson’s disease – A case report. / Németh, Dániel; Folhoffer, Anikó; Smuk, Gábor; Kajtár, Béla; Tornóczky, T.; Szalay, F.

In: Journal of Gastrointestinal and Liver Diseases, Vol. 26, No. 3, 01.09.2017, p. 305-308.

Research output: Article

Németh, Dániel ; Folhoffer, Anikó ; Smuk, Gábor ; Kajtár, Béla ; Tornóczky, T. ; Szalay, F. / Cholangiocarcinoma in wilson’s disease – A case report. In: Journal of Gastrointestinal and Liver Diseases. 2017 ; Vol. 26, No. 3. pp. 305-308.
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