ABSTRACT
Copper accumulation in the liver is associated with cellular and apoptotic injury.
Wilson disease is the most well-characterized disorder of disordered copper metabolism.
Other less-common disorders include Indian childhood cirrhosis, endemic Tyrolean infantile
cirrhosis, and idiopathic copper toxicosis. The histopathologic spectrum of the liver
in Wilson disease is extremely variable and overlaps among the different entities,
though this review will focus on the pathology of Wilson disease. The findings lack
specificity, although characteristic findings are observed. Unlike other disorders
of copper overload, the pathologic changes are typically sequential, ranging from
little or no significant findings to cirrhosis with or without widespread hepatocellular
damage. Steatosis and glycogenated nuclei are frequent. Staining of copper is an unreliable
method of diagnosis of Wilson disease, whether there are minimal histologic abnormalities
or chronic liver disease. Copper and copper-associated protein accumulation may also
be seen in chronic biliary obstructive processes.
KEYWORDS
Wilson disease - copper overload
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Kisha A MitchellM.D.
Assistant Professor of Pathology
310 Cedar Street, LH219A, New Haven, CT 06520
Email: kisha.mitchell@yale.edu
