Features of fulminant hepatitis in a patient with Wilson's disease:
(1) elevated serum total bilirubin and liver function tests
(2) hepatic encephalopathy
(3) coagulopathy
(4) intravascular hemolytic anemia with negative direct antiglobulin (Coombs) test and reticulocytosis
(5) acute renal failure and failure in other organs
Clues to the diagnosis:
(1) previous diagnosis of Wilson's disease
(2) Wilson's disease in a close relative
(3) markedly elevated hepatic copper level
(4) elevated free serum copper (non-ceruloplasmin copper)
(5) markedly elevated urine copper (> 800 µg or > 12.5 µmoll copper per 24 hours)
where:
• Sallie et al reported a normal urine copper as < 1.25 µmol per 24 hours.
• Hepatic copper levels may vary considerably from different regions of the liver.
• Sallie et al noted normal hepatic copper levels in 2 of 15 patients.
• Sallie et al had a normal free serum copper of < 3.0 µmol/L. This was normal in one patient, 2-3 times the upper limit of normal in 3 patients, and > 5 times the upper limit of normal in 11.
Other findings that may be less helpful:
(1) low serum cerulosplasmin (nonspecific)
(2) mild elevation in urine copper
Differential diagnosis:
(1) fulminant hepatitis from other cause in a patient heterozygous for Wilson's disease
(2) fulminant hepatitis from other cause
Genetic testing can be very helpful in confirming the diagnosis.
