Year: 2025
Type: article
Study design: Case Report
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.
DOI: 10.1159/000548202
Authors: Joana Reis Aguiar, Helena Pessegueiro Miranda, Cláudia Pereira
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4413884026