Antemortem diagnosis and short-term survival of a patient with Wilson's disease presenting as fulminant hepatic failure.
When Wilson's disease presents as fulminant hepatic failure, it may be extremely difficult to differentiate from other causes of hepatic insufficiency. A recently described diagnostic biochemical profile (elevated serum and urine copper levels, mild transaminase elevation, very high bilirubin levels, and low hemoglobin with intravascular hemolysis) was employed to diagnose this form of Wilson's disease prior to death in a young woman without Kayer-Fleischer rings and with a normal serum ceruloplasmin level. Since hepatic transplantation now offers a possible cure for this previously uniformly fatal form of Wilson's disease, it should be considered the treatment of choice for this disease entity. Combined with the availability of hepatic transplantation, this patient's temporary improvement and unusually long survival of four months further emphasizes the importance of this diagnostic profile in recognizing Wilson's disease quickly and accurately when it presents as fulminant hepatic failure.
D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006501:Hepatic Encephalopathy / Q000175:diagnosis; D006527:Hepatolenticular Degeneration / Q000175:diagnosis*; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis*