Hepatobiliary malignancies in Wilson disease
Jan Pfeiffenberger1, Carolin Mogler, Daniel N Gotthardt
1Department of Internal Medicine IV, University Hospital Heidelberg, Heidelberg, Germany; Liver Cancer Center Heidelberg, University Hospital Heidelberg, Heidelberg, Germany.
Summary
Hepatobiliary malignancies are rare in Wilson disease patients, with a low prevalence observed in a large cohort. Further investigation is needed to understand the impact of copper depletion on tumor activity.
Area of Science:
- Hepatology
- Oncology
- Genetic liver diseases
Background:
- Wilson disease is a rare genetic disorder characterized by excessive copper accumulation.
- Hepatobiliary malignancies are infrequently reported in Wilson disease patients.
- This study investigates the occurrence and characteristics of liver tumors in a large Wilson disease cohort.
Purpose of the Study:
- To evaluate the incidence and clinical course of hepatobiliary malignancies in Wilson disease patients.
- To perform pathological analysis of tumor tissue in affected patients.
- To determine the relationship between Wilson disease and liver cancer development.
Main Methods:
- Multicenter retrospective cohort study.
- Inclusion of 1186 patients with confirmed Wilson disease diagnosis.
- Analysis of tumor occurrence, treatment, and outcomes.
Main Results:
- Fourteen out of 1186 Wilson disease patients (1.2%) developed hepatobiliary malignancies.
- Hepatocellular carcinoma (HCC) and intrahepatic cholangiocellular carcinoma (ICC) were observed.
- Tumor tissue analysis revealed no abnormal copper concentrations.
Conclusions:
- The rate of hepatobiliary malignancies in Wilson disease is notably low, even in patients with cirrhosis.
- Histological analysis via biopsy or resection is crucial for suspect liver lesions, given the presence of both HCC and ICC.
- The effect of copper depletion therapy on tumor activity requires further research.
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