[Acute liver failure and hemolysis in a 16-year-old woman. First manifestation of Wilson's disease]
Investigations and diagnosis: Diagnostic ultrasound showed an enlarged and hyperdense liver. Laboratory tests revealed a markedly increased serum bilirubin, while aminotransferases were only slightly elevated and alkaline phosphatase was unexpectedly low. Prothrombin and antithrombin III levels were low. There was a Coombs-negative hemolytic anemia. Ceruloplasmin was lower than normal. Based on these findings, acute Wilson's disease was suspected.
Treatment and course: The patient was immediately transferred to a hepatologic center with transplantation facilities. There, urinary copper excretion and copper concentration in the liver tissue were found to be elevated. Liver histology showed fibrosis but no cirrhosis. Under conservative therapy with trientine liver function recovered, and the patient is well 3 years after the onset of symptoms.
Conclusion: Acute liver insufficiency should always suggest the possibility of Wilson's disease, particularly when hemolysis is also present.
Med Klin (Munich). 2005 Sep 15;100(9):579-82. German. doi: 10.1007/s00063-005-1063-8. PMID: 16170647.