Cirrhosis in Wilson Disease

Wilson disease is a rare autosomal recessive disorder due to mutations in the ATP7B gene on chromosome 13q14-21. The implicated ATPase is required for copper transport. Disruption of normal hepatic copper transport leads to copper accumulation in hepatocytes and progressive liver disease. Histologic lesions usually precede clinical disease. In the early stages, there is steatosis with occasional lipogranulomas and minimal inflammation. Untreated, these changes progress to chronic hepatitis, which may resemble chronic viral hepatitis histologically, and cirrhosis (as seen here) may ensue. Besides liver, copper deposition occurs in brain, cornea, and kidneys. Image Copyright: pathorama.ch.