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Semin Liver Dis 2007; 27(1): 122-127
DOI: 10.1055/s-2007-967203
DIAGNOSTIC PROBLEMS IN HEPATOLOGY

Copyright © 2007 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA.

Hepatocellular Carcinoma Associated with an Atypical Presentation of Wilson's Disease

Ruliang Xu1 , Moueen Bu-Ghanim1 , M. Isabel Fiel1 , Thomas Schiano2 , 3 , Emil Cohen4 , Swan N. Thung1
  • 1The Lillian and Henry M. Stratton-Hans Popper Department of Pathology, The Mount Sinai Medical Center, New York, New York
  • 2Department of Internal Medicine, Division of Hepatology, The Mount Sinai Medical Center, New York, New York
  • 3Recanati/Miller Transplantation Institute, The Mount Sinai Medical Center, New York, New York
  • 4Department of Radiology, The Mount Sinai Medical Center, New York, New York
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Publication Date:
12 February 2007 (online)

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Wilson's disease (WD) is a rare autosomal recessive metabolic disorder with an incidence of 1:40,000.[1] The WD gene is located on chromosome 13 and codes for a copper transporting P-type ATPase-ATP7B.[2] [3] Mutations of the WD gene cause impaired biliary copper excretion, resulting in copper accumulation in many vital organs, including liver, central nervous system, and cornea. Patients may therefore develop cirrhosis, neurological manifestations, and Kayser-Fleischer rings. A fair number of patients, however, may have only hepatic manifestations, and among these patients with liver disease some have normal laboratory results, such as normal levels of serum ceruloplasmin and 24-hour urine copper excretion.[4] [5] In this subset of patients the diagnosis of WD becomes a challenge, and subsequent management is problematic.

The development of hepatocellular carcinoma (HCC) in WD is reported to be a rare but deadly complication. In contrary to early observations that copper accumulation may have a protective effect on hepatocarcinogenesis,[6] [7] recent evidence suggests that accumulation of copper in the liver is a risk factor for HCC.[4] [8] To date, there have been at least 20 reported cases of HCC associated with well-established WD.[4] [6] [9] [10] [11] [12] [13] [14] [15] [16] [17] [18] [19] [20] [21] [22] [23] These tumors have been treated either surgically or with chemoembolization, both showing variable results.

Herein we report an unusual case of HCC being the first manifestation of undiagnosed WD; the HCC was successfully treated with liver transplantation and the diagnosis of WD was made upon review of the liver explant.