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Wilson's Disease P007

Document
Last amended 
30 June 2015
Current RMA Instruments:
Reasonable Hypothesis SOP
33 of 2015
Balance of Probabilities SOP
34 of 2015
Changes from Previous Instruments:

SOP Bulletin 179

ICD Coding:
  • ICD-9-CM Codes: 275.1
  • ICD-10-AM Codes: E83.0

Wilson's disease is an inherited condition resulting in the toxic accumulation of copper in the liver, brain, and other organs.

Is specific diagnostic evidence required to apply the SOP? – No.
Are there sub-factors that require specific information? – No.
Additional diagnoses covered by SOP
  • Nil
Conditions not covered by SOP
  • Liver pathology from other causes such as alcohol.
  • Brain pathology from other causes.
Unconfirmed diagnosis

If, after applying the above information, you are unable to confirm the diagnosis, you should then seek medical officer advice about further investigation.

Notes on appropriate clinical management

Worsening beyond the normal progression of the disease needs to be evident before a clinical worsening factor can be considered.

The clinical presentation of Wilson’s disease is variable. Liver disease occurs in 18 to 84 percent of patients; neurologic symptoms in 18 to 73 percent; and psychiatric symptoms in 10 to 100 percent. Liver disease may comprise chronic hepatitis, hepatic steatosis, or cirrhosis.

The treatment is to remove the accumulated copper with chelating drugs and then to prevent reaccumulation. Untreated, Wilson disease is universally fatal. Copper accumulation in the liver eventually leads to the development of cirrhosis and, among patients with neurologic Wilson disease, the neurologic disease may progress until the patient becomes severely dystonic, akinetic, and mute. The progression is usually gradual, but sudden deterioration may also occur. The majority of patients will die from liver disease (cirrhosis or acute liver failure), while the remainder die due to complications due to progressive neurologic disease.

The prognosis for patients who receive and are adherent to treatment for Wilson disease is excellent, even in some who already have advanced liver disease. In patients without advanced liver disease, life expectancy is normal, though treatment may lead to worsening of neurologic symptoms in a fraction of patients.