ArticleGE Portuguese journal of gastroenterology2025
Intrahepatic Cholangiocarcinoma in Wilson's Disease: 2 Case Reports.
Article in GE Portuguese journal of gastroenterology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Wilson's disease is a rare autosomal recessive inherited disorder of human copper metabolism. The spectrum of clinical manifestations of liver disease ranges from asymptomatic to cirrhosis and acute liver failure. Unlike the increased frequency of hepatobiliary tumours in other chronic liver diseases, the incidence of these tumours in Wilson's disease is an uncommon event, even in cirrhotic patients. Case Presentation: We describe two clinical cases of cirrhotic patients with Wilson disease diagnosed with cholangiocarcinoma. Discussion: The occurrence of hepatobiliary malignancies in Wilson's disease is rare, even in cirrhotic patients. The exact reasons for this low prevalence are unclear, with some conflicting data. Copper's role in chromatin stabilization and angiogenesis, along with copper deficiency due to Wilson's disease and its treatment, may reduce tumour growth. The current guidelines do not have specific directives regarding cholangiocarcinoma screening in patients with cirrhosis secondary to Wilson's disease. Despite the lower incidence of malignancies in Wilson's disease, vigilant monitoring is advised.
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