Abdominal malignancies in patients with Wilson's disease

Walshe, J. M.; Waldenström, Erik; Sams, V. R.; Nordlinder, Hans; Westermark, Kerstin

doi:10.1093/qjmed/hcg114

Cited by 115 publications

(77 citation statements)

References 6 publications

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“…However, Opalski cells, said to be pathognomonic of copper toxicity in the brain, were absent, in concordance with a former publication [15]. In our patient, CCC developed on a cirrhotic liver, similarly to HCC, as previously published [6,16]. …”

Section: Discussionsupporting

confidence: 92%

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Cholangiocarcinoma in Wilson’s Disease – a Case Report

Németh

Folhoffer

Smuk

et al. 2017

JGLD

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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.Abbreviations: CCC: cholangiocarcinoma; HCC: hepatocellular carcinoma; WD: Wilson disease.

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Section: Discussionsupporting

confidence: 92%

“…Many reports have been published thenceforth; however, most of them dealt with HCC carcinoma in WD patients. Cholangiocarcinoma has been published mainly as case reports; there are only two retrospective cohort studies on abdominal/hepatobiliary malignancies [6,7].…”

Section: Discussionmentioning

confidence: 99%

Cholangiocarcinoma in Wilson’s Disease – a Case Report

Németh

Folhoffer

Smuk

et al. 2017

JGLD

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“…Correct staging of liver disease, especially the detection of advanced liver fibrosis or cirrhosis in patients with WD, is of therapeutic and prognostic importance. For example, the presence of cirrhosis alters the management of patients as regards monitoring for esophageal and gastric varices and hepatocellular carcinoma (D'Amico and Luca, 1997;Schuppan and Afdhal, 2008;Walshe et al, 2003). Histological examination of percutaneous biopsy specimens is the gold standard for assessment of fibrosis and cirrhosis; however, liver biopsy is an invasive procedure.…”

Section: Introductionmentioning

confidence: 99%

Liver cirrhosis in patients newly diagnosed with neurological phenotype of Wilson�s disease

Przybyłkowski¹

2014

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SummaryWilson's disease (WD) can manifest itself in different clinical forms, the neurological and hepatic ones being the most common. It is suggested that neurological signs and psychiatric symptoms develop secondary to liver involvement. The aim of this study was to characterize the liver disease in patients newly diagnosed with the neurological form of WD. Treatment-naive patients diagnosed with WD were classified into three phenotypic groups: hepatic, neurological and pre-symptomatic. Liver involvement was ascertained through surrogate markers: abdominal ultrasound and laboratory parameters. In addition, study participants were screened for esophageal varices. Of 53 consecutively diagnosed WD patients, 23 individuals (43.4%) had a predominantly neurological presentation. In this group, cirrhosis was diagnosed in 11 (47.8%) subjects. Esophageal varices were present in all of them. In every patient with neurological WD, there was at least one sign of hepatic disease on ultrasound examination, indicating universal presence of liver involvement. The prevalence of surrogate signs of cirrhosis was similar in patients with the neurological and in those with the hepatic phenotype.

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“…Although the exact pathogenetic association and predisposition have not been found, the coexistence of Wilson disease and intraabdominal malignancies such as adenocancer, hepatoma and cholangiocellular cancer has been reported (6). However, to our knowledge, a coexistence of seminoma and Wilson disease has not been reported to date.…”

Section: Discussionmentioning

confidence: 85%