Metallothionein Immunohistochemistry is a Highly Sensitive Biomarker for Wilson Disease

Wilson disease (WD) is caused by mutations in the atp7b gene resulting in copper accumulation in liver, brain, and cornea. Hepatic involvement may be asymptomatic until cirrhosis or may manifest as fulminant hepatic failure. The diagnosis can be difficult, as both clinical criteria and genetic testing have limitations. Histochemical staining of copper and copper-associated protein is used during evaluation of liver biopsies with suspected WD. Here, the diagnostic performance of metallothionein (MT) was evaluated.