Wilson's Disease
What is Wilson’s disease?
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
Cause
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.
Symptoms
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
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| A quick overview of symptoms of Wilson's disease |
Diagnosis
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
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| MRI showing "Split thalamus": Internal medullary involvement in Wilson's disease |
Laboratory tests include:
• testing blood sugar for hypoglycemia
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| Arrows indicate Kayser-Fleischer corneal ring |
• 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)
Treatment
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.
Prognosis
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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