Wilson's disease

Written by Lydia Krause
Medically Reviewed by George Krucik, MD

What Is Wilson’s disease?

Wilson’s disease, also known as hepatolenticular degeneration, is a rare genetic disorder caused by the buildup of copper. Small amounts of copper exist in the body and are released through the urine. In Wilson’s disease, the copper cannot leave the body so it accumulates in certain organs.

Most copper builds up in the liver and brain. Copper accumulation in the brain causes neurological problems. Buildup in the liver can result in liver failure and kidney dysfunction.

Though treatable, early diagnosis is crucial in stopping the progression of Wilson’s disease. Delayed treatment or no treatment at all can result in liver failure, brain damage, or even death.

Risk Factors

Risk factors for Wilson’s disease are genetic. Parents who carry the gene are at risk for passing the disease on to their children. A genetic test can be performed if a child shows symptoms of Wilson’s and has one or both parents who have the disease.


The cause of Wilson’s disease is genetic. The disease follows an autosomal recessive inheritance pattern. This means both parents either have the disease or are a carrier of the gene. This is the only way it can be passed on to their children. Wilson’s disease is caused by a mutation in the ATP7B gene that prevents the liver from disposing of copper as a healthy liver should.


Wilson’s disease has many symptoms. They can be divided into neurological (brain-related) and non-neurological.

Neurological symptoms result from copper buildup in the brain and include:

  • memory impairment
  • gait disturbance
  • vision impairment
  • psychosis
  • tremor

Symptoms caused by accumulations in liver or kidneys include:

  • hypoglycemia
  • kidney dysfunction
  • jaundice (caused by liver failure)
  • cirrhosis of the liver


The variety of symptoms and the rarity of the disease make diagnosis of Wilson’s disease difficult. Your doctor will use a variety of laboratory tests and radiological imaging to aid in diagnosis by uncovering damage caused by copper accumulations.

Magnetic Resonance Imaging (MRI) may show:

  • damage to the brain
  • damage of the liver
  • weakening of the brain stem signals

Laboratory tests include:

  • testing blood sugar for hypoglycemia
  • testing for blood levels of ceruloplasmin (a copper-containing protein)
  • urine testing for presence of copper

Other tests include:

  • Rey’s Auditory Verbal Learning (memory, learning, etc.) test to measure motor defects
  • liver biopsy for copper accumulation
  • genetic test for mutation responsible
  • checking for presence of Kayser-Fleischer corneal ring (a brownish-yellow ring around the cornea of the eye)


Successful treatment of Wilson’s disease is dependent upon timing over actual medication chosen. The faster treatment happens, the less damage will result. The most common treatments are de-coppering and chelating therapy.

De-coppering therapy includes drugs like d-penicillamine and zinc sulfate. These work by releasing copper from the organs and into the bloodstream. The copper is then filtered by the kidneys and leaves the body through the urine.

Chelating therapy includes drugs like trientine and zinc salt. These medications block the absorption of copper from food. Often, your doctor will recommend you use de-coppering and chelating therapies together.


The prognosis for untreated Wilson’s disease is grim. Over time, copper builds up to toxic levels. Then, the liver fails and permanent brain damage occurs.

Early treatment can help reverse neurological issues and liver damage. Treatment in a later stage cannot always restore the damage but may prevent further progress of the disease. Patients may suffer from mental difficulties like memory problems for the duration of their life.

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