Wilson's disease

Wilson's disease is an inherited disorder in which impaired copper transport causes copper to accumulate, especially in the liver, brain, and eyes. It can damage multiple organs but is treatable when recognized.

ATP7B: ATP7B is a copper-transporting ATPase that moves copper into bile and incorporates it into ceruloplasmin. Variants in this gene disrupt the copper export and packaging pathways impaired in Wilson's disease.
Kayser–Fleischer ring: A Kayser–Fleischer ring is a brown or greenish copper deposit at the edge of the cornea. This visible finding can strongly support Wilson's disease, especially with neurological symptoms.
Autosomal recessive inheritance: Autosomal recessive inheritance occurs when a person inherits disease-causing variants in both copies of an autosomal gene. Wilson's disease usually develops when pathogenic ATP7B variants are inherited from both parents.
Acute liver failure: Acute liver failure is a rapid loss of liver function in someone without established advanced chronic liver disease. Wilson's disease can cause a life-threatening acute presentation, particularly in younger people.
Copper metabolism: Copper metabolism is the absorption, transport, use, storage, and elimination of copper in organisms. Wilson's disease is a failure of normal copper handling, especially biliary elimination.
Liver biopsy: A liver biopsy removes a small sample of liver tissue for microscopic and chemical analysis. Measuring hepatic copper can help establish the diagnosis when blood and urine tests are inconclusive.
Liver function tests: Liver function tests are blood measurements used to assess liver injury and aspects of liver function. Abnormal results may be the first clue when copper-related liver injury has no obvious symptoms.
Cirrhosis: Cirrhosis is advanced liver scarring that disrupts normal liver structure and function. Long-standing copper-related liver injury can progress to cirrhosis.
Ceruloplasmin: Ceruloplasmin is a copper-carrying protein in blood that also oxidizes iron. Impaired copper incorporation into ceruloplasmin often lowers its measured concentration.
Penicillamine: Penicillamine is a medication that binds metals and promotes their excretion in urine. It is a copper-chelating treatment used to lower body copper stores.

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