Typically, we ingest more copper in the diet than necessary – most is excreted through the biliary system (some through the urine)
Normally, ingested copper is stored in plasma as ceruloplasmin.
Patients with Wilson’s disease, have a decreased rate of copper incorporation into ceruloplasmin and a decreased rate of biliary excretion
Typically considered a disease that presents in young people, but can present at any age
The most common presentations are with liver disease or neuropsychiatric disturbances
Wilson’s disease can manifest with an impressive spectrum of neurological, behavioral or psychiatric disorders, which may be its first clinical manifestation, appearing simultaneously with hepatic signs, or some years later.
Liver: cirrhosis; increased bilirubin out of proportion to alkaline phosphatase, which may be abnormally low; AST>>ALT
Heme: hemolytic anemia, caused by release of copper into the circulation
Neurologic: movement disorder (tremor, poor coordination) or rigid dystonia, including bulbar sx
Psych: highly variable—from OCD to psychosis to depression
Ocular: Kayser-Fleischer rings caused by copper deposition (not required for dx, nor are they specific for Wilson’s—may be found in other types of chronic liver disease)
Renal: Fanconi’s syndrome (proximal tubular dysfunction resulting in Type 2 RTA, glucosuria with normal serum glucose, hypouricemia and hypophosphatemia)