Wilson's disease, presenting as chronic active hepatitis

Seventeen patients (8 males and 9 females) with Wilson's disease (mean age 12 years) presented with clinical, biochemical, and morphological features similar to those of chronic active hepatitis. Neurological dysfunction was evident in only 3 patients (mean age, 18 years); Kayser-Fleischer rings were absent in 8 patients and the serum ceruloplasmin was normal in 3 patients with severe hepatic failure. Smooth muscle, mitochondrial antibodies, and HBsAg were negative in all patients. Cirrhosis was present on initial liver biopsy in 15 patients. Despite d-penicillamine therapy (1.0 to 3.0 g daily), 4 patients died within 3 weeks of diagnosis from fulminant hepatic failure associated with hemolysis. A further 5 patients died within 2 years as a result of hepatic failure (3 patients), variceal hemorrhage (1 patient), and a lupus-like syndrome (1 patient). A sustained improvement was observed in 8 patients who remain well (mean survival time, 7 years) with near normal liver function tests and inactive hepatic histology. Wilson's disease patients presenting as chronic active hepatitis frequently exhibit atypical features: Kayser-Fleischer rings and neurological dysfunction can be absent, and both serum ceruloplasmin and serum copper can be normal especially if there is severe hepatocellular necrosis. As a result, diagnosis of Wilson's disease may be delayed, and once cirrhosis is established this form of Wilson's disease can have a poor prognosis despite d-penicillamine therapy. It is essential, therefore, that the diagnosis of Wilson's disease be excluded in all patients with chronic active hepatitis and chronic parenchymal liver disease of unknown etiology so that an optimum treatment response to d-penicillamine can be achieved.