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Diagnosing Wilson disease and primary biliary cirrhosis using liver tissue specimens.
Homeostatic regulation of copper metabolism is very complex. The liver is the key organ to facilitate copper storage and incorporation of copper into the transport protein ceruloplasmin. Intestinal absorption and biliary excretion also play major roles in the regulation of copper homeostasis. Abnormal copper metabolism is associated with liver disease. Elevated serum copper concentrations are seen in portal cirrhosis, biliary tract disease, and hepatitis, probably because excess copper that would normally be excreted in the bile is retained in circulation. In primary biliary cirrhosis, ceruloplasmin is high, resulting in high serum copper. Lesser elevations of hepatic copper are found in chronic copper poisoning, obstructive jaundice, and certain cases of hepatic cirrhosis. Reduced serum copper concentration is typical of Wilson disease (hepatolenticular degeneration). Wilson disease is characterized by liver disease, neurologic abnormalities, and psychiatric disturbances. Kayser-Fleischer rings are normally present and urinary copper excretion is increased, while serum copper and ceruloplasmin are low.
10-35 mcg/g dry weight >1,000 mcg/g dry weight: VERY HIGH This finding is strongly suggestive of Wilson disease. If this finding is without supporting histology and other biochemical test results, contamination during collection, handling, or processing should be considered. Fresh tissue would be appropriate for copper measurement. Genetic test for Wilson disease (WDZ / Wilson Disease, Full Gene Analysis, Varies) is also available at Mayo Clinic. Call 800-533-1710 or 507-266-5700 if you need further assistance. 250-1,000 mcg/g dry weight: HIGH This finding is suggestive of possible Wilson disease. If this finding is without supporting histology and other biochemical test results, contamination during collection, handling, or processing should be considered. Fresh tissue would be appropriate for copper measurement. Genetic test for Wilson disease (WDZ / Wilson Disease, Full Gene Analysis, Varies) is also available at Mayo Clinic. Call 800-533-1710 or 507-266-5700 if you need further assistance. 35-250 mcg/g dry weight: HIGH Excessive copper at this level can be associated with cholestatic liver disease, such as primary biliary cirrhosis, primary sclerosing cholangitis, autoimmune hepatitis, and familial cholestatic syndrome. Heterozygous carriers for Wilson disease occasionally have modestly elevated values, but rarely higher than 125 mcg/g of dry weight. In general, the liver copper content is higher than 250 mcg/g dried tissue in patients with Wilson disease. If this finding is without supporting histology and other biochemical test results, contamination during collection, handling, or processing should be considered. Fresh tissue would be appropriate for copper measurement. Genetic test for Wilson disease (WDZ / Wilson Disease, Full Gene Analysis, Varies) is also available at Mayo Clinic. Call 800-533-1710 or 507-266-5700 if you need further assistance.
The constellation of symptoms associated with Wilson disease (WD), which includes Kayser-Fleischer rings, behavior changes, and liver disease, is commonly associated with liver copper concentration above 250 mcg/g dry weight. VERY HIGH: Above 1,000 mcg/g dry weight. This finding is virtually diagnostic of WD; such patients should be showing all the signs and symptoms of WD. HIGH: 250 mcg/g dry weight to 1,000 mcg/g dry weight. This finding is suggestive of WD unless signs and symptoms, supporting histology, and other biochemical results (low serum ceruloplasmin, low serum copper, and high urine copper) are not evident. HIGH: 35 mcg/g dry weight to 250 mcg/g dry weight. Excessive copper at this level can be associated with cholestatic liver disease, such as primary biliary cirrhosis, primary sclerosing cholangitis, autoimmune hepatitis, and familial cholestatic syndrome. The heterozygous carriers for WD occasionally have modestly elevated values, but rarely higher than 125 mcg/g of dry weight. In general, the liver copper content is higher than 250 mcg/g dried tissue in WD patients. In patients with elevated levels of copper without supporting histology and other biochemical test results, contamination during collection, handling, or processing should be considered. Fresh tissue would be appropriate for copper measurement. Genetic test for WD (WDZ / Wilson Disease, Full Gene Analysis, Varies) is available at Mayo Clinic.