Hepatocellular Carcinoma Associated with Wilson's Disease

Iwadate, Haruyo; Ohira, Hiromasa; Suzuki, Tomohiro; Abe, Kazumichi; Yokokawa, Junko; Takiguchi, Junko; Rai, Tsuyoshi; Orikasa, Hiroshi; Irisawa, Atsushi; Obara, Katsutoshi; Kasukawa, Reiji; Satô, Yukio

doi:10.2169/internalmedicine.43.1042

Cited by 44 publications

(28 citation statements)

References 16 publications

(10 reference statements)

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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%

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%

Cholangiocarcinoma in Wilson’s Disease – a Case Report

Németh

Folhoffer

Smuk

et al. 2017

JGLD

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“…In cases 10-16, the HBsAg and HCV antibodies were assayed and found to be negative in each patient (4,(17)(18)(19)(20)(21). In the present case, anti-HCV, HBsAg, and anti-HBc were all negative, and WD was thought to have an etiological relationship with the HCC.…”

Section: Discussionmentioning

confidence: 51%

“…On the other hand, Sone et al reported that use of a copper-chelating agent reduced the risk of HCC in Long-Evans cinnamon rats, an animal model of WD (22). In addition, some studies have found that copper may prevent the occurrence of HCC (17,23). In the present case, the results of a liver biopsy conducted following RFA therapy showed improvement after administration of a copper chelator.…”

Section: Discussionmentioning

confidence: 99%

Hepatocellular Carcinoma in a Case of Wilson's Disease Treated with Radiofrequency Ablation Therapy

et al. 2011

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A 37-year-old Japanese man was diagnosed with liver cirrhosis due to Wilson's disease in 2001 and treated with D-penicillamine. Thereafter, he was admitted to our hospital for further examination of a space occupying lesion in the liver. The patient was diagnosed with hepatocellular carcinoma (HCC) (7th segment, 2.5 cm in diameter) in May 2010 and treated with radiofrequency ablation therapy. Biopsy findings from a non-cancerous area revealed a fatty liver, though cirrhotic nodules were not found. Long-term treatment for Wilson's disease may improve hepatic fibrosis, and careful screening for HCC by abdominal imaging is needed in such cases.

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“…The risk of a hepatoma developing in this situation is low, at 1 in 400 lifelong, but recent studies would suggest hepatocellular carcinoma is more common in Wilson's disease than appreciated. [88][89][90] Some authors do not advocate routine hepatoma surveillance in cirrhosis related to Wilson's disease. 8,91 In practice however, clinicians will often opt for hepatoma surveillance, especially in the elderly.…”

Section: Initial Therapymentioning

confidence: 99%

Insights into the management of Wilson’s disease

Kathawala

Hirschfield

2017

Therap Adv Gastroenterol

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Abstract:Wilson's disease is a rare, inherited autosomal recessive disease of copper metabolism, in which the causative gene, ATP7B, results in absent or reduced function of the ATP7B transporter important for biliary excretion of copper and incorporation of copper into caeruloplasmin. Affected patients accumulate excessive copper within the liver, brain and other tissues. A disease mainly of children, adolescents and young adults; clinical features vary from the asymptomatic state to chronic liver disease, acute liver failure, and neuropsychiatric manifestations. Diagnosis requires a high index of suspicion and is based on a combination of clinical signs, biochemical tests, hepatic copper content assay and mutation analysis of the ATP7B gene; to date, there are more than 500 mutations of ATP7B in patients with Wilson's disease. Early recognition and treatment can result in an excellent prognosis whereas untreated disease is almost always fatal. Drug therapies include chelating agents, such as penicillamine or trientine, and zinc salts. Liver transplantation is curative correcting the underlying pathophysiology and is traditionally indicated in acute liver failure or end-stage liver disease refractory to medical therapy. This review provides an overview of various aspects of Wilson's disease including molecular basis of the disease, clinical features, diagnostic and management strategies with their current limitations.

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Hepatocellular Carcinoma Associated with Wilson's Disease

Cited by 44 publications

References 16 publications

Cholangiocarcinoma in Wilson’s Disease – a Case Report

Cholangiocarcinoma in Wilson’s Disease – a Case Report

Hepatocellular Carcinoma in a Case of Wilson's Disease Treated with Radiofrequency Ablation Therapy

Insights into the management of Wilson’s disease

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