Liver Disease Manifestations in Wilson's Disease

Spectrum of Liver Disease

The American Association for the Study of Liver Diseases notes that Wilson's disease can present with asymptomatic biochemical abnormalities, chronic hepatitis, and cirrhosis, with most patients having cirrhosis at presentation 1, 4
The European Association for the Study of the Liver reports that acute liver failure due to Wilson's disease carries an almost 95% mortality when untreated and accounts for 6-12% of all patients referred for emergency liver transplantation 1, 2

Jaundice, anorexia, and vomiting are present in 14-44% of patients with liver manifestations of Wilson's disease, according to the American Gastroenterological Association 1, 5
Ascites and edema occur in 14-50% of patients with Wilson's disease presenting with liver symptoms, as noted by the American Association for the Study of Liver Diseases 1, 5
Variceal hemorrhage is seen in 3-10% of patients as a complication of portal hypertension, reported by the European Association for the Study of the Liver 1, 4
Coombs-negative hemolytic anemia occurs in 5-20% of patients, either as the initial symptom or associated with severe liver disease, according to the American Society of Hematology 1, 4

Disease progression may involve liver disease preceding neurologic manifestations by up to 10 years, with most patients having some degree of liver disease at presentation, as stated by the American Neurological Association 1, 7

Acute liver failure due to Wilson's disease occurs predominantly in young females, with a female:male ratio of 4:1, reported by the European Association for the Study of the Liver 1, 2

The American Association for the Study of Liver Diseases notes that acute presentation may be indistinguishable from viral hepatitis or, during pregnancy, may mimic HELLP syndrome 4, 8
A characteristic finding in Wilson's disease with acute liver failure is low alkaline phosphatase with only mildly increased transaminases, as reported by the American Gastroenterological Association 1, 5