Atypical presentation of Wilson disease

Sheetal Wadera, Margret S. Magid, Mark McOmber, David Carpentieri, Tamir Miloh

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

A 15-year-old Caucasian female on human chorionic gonadotropin (HCG) diet presented with fever, cholestasis, coagulopathy, hemolytic anemia, and acute renal dysfunction. Imaging of the biliary system and liver were normal. She responded to intravenous antibiotics, vitamin K and blood transfusions but experienced relapse upon discontinuation of antibiotics. She had remission with reinstitution of antibiotics. Liver biopsy revealed pronounced bile ductular reaction, bridging fibrosis, and hepatocytic anisocytosis and anisonucleosis with degenerative enlarged eosinophilic hepatocytes, suggestive of Wilson disease. Diagnosis of Wilson disease was further established based on the low serum ceruloplasmin, increased urinary and hepatic copper and presence of Kayser-Fleischer rings. The multisystem involvement of the liver, kidney, blood, and brain are consistent with Wilson disease; however, the clinical presentation of cholangitis and reversible coagulopathy is uncommon, and may result from concurrent acute cholangitis and/or the HCG diet regimen the patient was on.

Original languageEnglish (US)
Pages (from-to)319-325
Number of pages7
JournalSeminars in liver disease
Volume31
Issue number3
DOIs
StatePublished - 2011
Externally publishedYes

Keywords

  • biliary
  • cholangitis
  • cholestasis
  • human chorionic gonadotropin diet
  • Wilson disease

ASJC Scopus subject areas

  • Hepatology

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