Diagnostic testing for Wilson disease

Diagnostic test	Findings in Wilson disease	Comments
Slit lamp examination (or optical tomography)	Kayser-Fleischer rings.	Kayser-Fleischer rings are golden brownish rings that result from fine pigmented granular deposits of copper in Descemet's membrane in the cornea close to the endothelial surface.
24-hour urinary copper excretion	A level >40 mcg/24 hours (>0.64 micromol/24 hours) is suggestive of Wilson disease and warrants further testing.	To assess accuracy of the collection, we measure urinary creatinine excretion. 24-hour urine creatinine excretion should be between 15 and 20 mg/kg body weight. Values substantially above or below this estimate suggest over- and under-collection, respectively.
Serum ceruloplasmin	Low level (<20 mg/dL [200 mg/L]).	Ceruloplasmin is a 132-kd protein synthesized by hepatocytes and secreted into the circulation. Ceruloplasmin with bound copper is referred to as holoceruloplasmin (representing most of circulating ceruloplasmin), whereas ceruloplasmin that does not contain bound copper is referred to as apoceruloplasmin. Ceruloplasmin is an acute phase reactant and may be increased above basal levels with inflammatory states.
Serum copper concentration	Typically low in proportion to the reduction in ceruloplasmin.	In acute liver failure due to Wilson disease, copper may be markedly elevated (>200 mcg/dL [31.4 micromol/L]).
Liver biopsy	Hepatic copper concentration is usually >250 mcg/g dry weight. Histologic findings may include fatty infiltration within hepatocytes, glycogen inclusions within nuclei, and portal fibrosis.
Genetic testing	Biallelic, pathogenic (disease-causing) variants affecting both ATP7B alleles are required for the diagnosis.	Wilson disease is an autosomal recessive disorder and is the result of mutation in ATP7B, a gene encoding a copper transport protein, ATP7B.
Brain imaging	MRI findings include abnormal T2 signals in the basal ganglia, brainstem, and white matter.	Brain imaging may be normal in patients with Wilson disease who do not have neuropsychiatric involvement.

This table summarizes diagnostic testing for evaluating patients with suspected Wilson disease. This table is intended for use in conjunction with additional UpToDate content. For more details, please refer to UpToDate topics on clinical features and diagnosis of Wilson disease.

MRI: magnetic resonance imaging.

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Diagnostic testing for Wilson disease