Viral Hepatitis and Liver Disease Website Course
Evaluating Liver Test Abnormalities
Understanding the Pathophysiology of Liver Disease
for Health Care Providers
Wilson's Disease (WD)
Wilson's disease (WD) is a genetic disorder of copper metabolism. Patients accumulate copper in the liver as well as other organs. Signs and symptoms are related to the particular organs affected.
Acute WD can lead to acute liver failure. In fact, WD should be suspected in any acute liver failure associated with Coombs-negative hemolysis, moderate aminotransferase elevation, low alkaline phosphatase level, and alkaline phosphatase/bilirubin ratio of less than 2.
Patients generally present at a relatively young age (between 5 and 40 year old). The initial presentations vary widely from incidental findings of abnormal liver tests to fulminant hepatic failure, chronic hepatitis, neuropsychiatric symptoms, and renal failure. Careful family history should be obtained with emphasis on unexplained liver and neurological and psychiatric disease.
- Kayser-Fleischer ring (copper deposition in the cornea) is characteristic of Wilson disease, but may not be present in all cases (need picture)
- Hepatomegaly and/or splenomegaly
Patients with acute drug-induced liver injury who develop confusion or asterixis should be urgently referred to a liver specialist or a transplant center.
- Alkaline phosphatase/bilirubin ratio less than 2
- Low serum ceruloplasmin
- Elevated free serum copper level
- Elevate urinary copper level
- Genetic testing requires a proband (family member who is diagnosed with Wilson disease)
- Hepatic copper concentration
- Blood smear (hemolysis is common in acute Wilson disease)
Patients with evidence of coagulopathy (prolonged PT/INR) should be urgently referred to a liver specialist or a transplant center.