Hepatic features of Wilson disease.

ABSTRACT

In Wilson disease (WD) defective AT7B function leads to biliary copper excretion and pathologic copper accumulation, particularly in liver and brain, where it induces cellular damage. Liver disease most often precedes neurologic or psychiatric manifestations. In most patients with neurologic or psychiatric symptoms there is some degree of liver disease at the time of disease presentation. Hepatic manifestations of WD can be extremely variable. Patients with clinically asymptomatic WD are often found by family screening or identified on routine laboratory testing. Others may have a clinical picture of chronic active hepatitis or of end-stage liver disease with cirrhosis. A minority present with acute liver failure, often on the background of advanced fibrosis. Complications from liver disease may be related to portal hypertension and concomitant liver disease may accelerate the course of liver disease. Liver cancer may occur in patients with WD, most commonly when cirrhosis and inflammation are present. The prognosis of patients with WD is excellent, especially for those without cirrhosis at the time of diagnosis, but requires timely initiation of appropriate therapy specific for WD and for the patient's liver disease independent of WD.