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Wilson Disease P007

Last amended 
8 May 2023
Current RMA Instruments
Reasonable Hypothesis SOP
47 of 2023
Balance of Probabilities SOP
48 of 2023
Changes from previous Instruments

SOP Bulletin 236

ICD Coding

ICD-10-AM Code: E83.0

Brief description

Wilson disease is an inherited condition that causes the toxic accumulation of copper in the liver, brain, and other organs.

Confirming the diagnosis

The diagnosis is based on clincial features (including family history) and laboratory testing (including genetic testing).

The relevant medical specialist is a paediatrician, hepatologist or neurologist.

Additional diagnoses covered by SOP
  • Nil
Conditions not covered by SOP
  • Liver pathology from other causes such as alcohol.
  • Brain pathology from other causes.
Clinical onset

Copper starts to accumulate in organs from birth.  The condition may become clinically apparent at any age, but mean age of diagnosis is 13 years.  Patients present with liver disease, neurological symptoms and/or pscyhiatric symptoms. Liver disease may comprise chronic hepatitis, hepatic steatosis, or cirrhosis.

Clinical worsening

The condition is fatal if untreated.  Lifetime therapy is effective if adhered to, but drug therapy can be associated with significant side effects. Liver transplant may be required for advanced disease with liver failure.  Inability to obtain appropriate clinical management over an extended period could cause a clinical worsening of the condition.