What is Wilson disease?

Wilson disease is a rare inherited condition that causes copper to accumulate in your brain, liver and other organs.  Copper is absorbed from the food you eat and is excreted through bile which is a substance produced by the liver.  Copper is important for the healthy development of bones, nerves, collagen and melanin (skin pigment).  People affected by Wilson disease, cannot eliminate copper properly which accumulates, resulting in signs and symptoms such as abdominal pain, characteristic golden-brown eye discoloration and muscle stiffness amongst others.  Wilson disease is often fatal if not diagnosed and treated early.

In the United States, Wilson disease affects 1 in every 30,000 citizens.  In addition, Wilson disease can be considered in people aged between 5-40 years.  This condition affects both men and women, though women are more likely to develop acute liver failure due to the condition than men.

What are the causes and risk factors for Wilson disease?

Wilson disease is an autosomal recessive disorder which means that you must inherit one copy of the defective from both parents in order to have signs and symptoms.  If you inherit only one copy from one parent, you will not have any signs and symptoms of the condition, but will be a carrier and can potentially pass the defective gene to your children.  That is why the main risk factor for acquiring Wilson disease is having a parent or sibling suffering from the condition.  If it is the case, it is important you undergo genetic testing to find out if you have the condition as an early diagnosis significantly increases your chance of benefitting from a successful treatment.

Wilson disease prevents your body from removing copper which result in an accumulation of copper in your brain, liver and other organs.  The signs and symptoms will depends on where copper has been accumulated.

What are the signs and symptoms of Wilson disease?

Wilson disease is present since birth but signs and symptoms do not become apparent until copper builds up in your brain, liver or other organs.  The signs and symptoms of Wilson disease include:

• Kayser-fleischer rings which are characteristic golden-brown discoloration of the eyes.
• Fatigue.
• Loss of appetite.
• Abdominal pain.
• Swollen abdomen or leg due to fluid accumulation.
• Jaundice which is yellowing of your skin and the whites of your eyes.
• Muscle rigidity.
• Uncontrolled movements.
• Swallowing difficulty.
• Problems with speech.
• Seizures.
• Emotional instability.
• Impulsiveness.
• Redness of your palms which is also known as palmar erythema.

There are other diseases or conditions which may resemble Wilson disease and these include:

• Autoimmune chronic active hepatitis.
• Hepatocellular adenoma.
• Multiple sclerosis.
• Huntington disease.
• Parkinson disease.
• Hepatitis A, B, C, D or E.
• Schizophrenia.
• Hemochromatosis.

Making a diagnosis

To make a diagnosis, your doctor will first take a detailed history from you to know more about your symptoms.  After the history taking, your doctor will perform a thorough physical examination to look for signs of Wilson disease.  To confirm the diagnosis, your doctor will order some tests and these include:

• Serum ceruloplasmin levels: The serum ceruloplasmin level is usually low in people with Wilson disease.
• Liver function test: As Wilson disease affects your liver, your doctor will order a liver function test to assess how well your liver is functioning.
• Urinary copper excretion: This test involves your doctor measuring the amount of copper in your urine over a 24 hour period.
• Hepatic copper concentration: This test involves your doctor taking a small sample of your liver (biopsy) using a thin needle to test the tissue for excess copper.
• Genetic testing: A genetic test may identify the defective genes in someone with Wilson disease.  If you have a family history of Wilson disease, it is important that your siblings also do the test so that an early diagnosis can be made in case they have Wilson disease unknowingly.
• Computed tomography (CT) scan of the brain: A CT scan of the brain is done to assess for the presence of any abnormalities in the brain as in Wilson disease, copper often accumulates in the brain.

• Magnetic Resonance Imaging (MRI) scan of the brain: An MRI scan of the brain is more accurate than a CT scan and does not involve ionising radiation.

What are the treatments of Wilson disease?

The treatments of Wilson disease include:

• Penicillamine: Penicillamine is a chelating agent which works by binding to copper and prompting your organs to release copper into your bloodstream.  The copper is then filtered by your kidneys to be released in urine.  Unfortunately, there are some side effects that are associated with this drug including kidney problems, skin problems and worsening of neurological symptoms.
• Zinc acetate: This medication works by preventing the absorption of copper by your body from the food you eat.  It is used as a maintenance therapy to prevent copper from accumulating again after treatment with penicillamine.  In addition, zinc acetate may cause stomach upset.  Furthermore, if you are allergic to penicillin, zinc acetate can be used as primary therapy. 
• Liver transplant: In cases where there is very severe liver damage, a liver transplant may be considered.  This surgical intervention involves your doctor removing the diseased liver and replacing it with a healthy one, obtained from a donor.

What are the complications of Wilson disease?

If Wilson disease is left untreated, the following complications may ensue:

• Liver cirrhosis: Liver cirrhosis occurs when your liver cells attempt to repair the damage done by the excess copper which results in scar tissues.  As a consequence, your liver functions declines even more.
• Kidney problems: The excess copper damage the kidneys, leading to kidney stones and loss of important amino acids.
• Liver failure: liver failure occurs when the liver function drops below acceptable levels which may require a liver transplant in order to reverse the condition.
• Persistent or permanent neurological problems: Some people unfortunately, suffer from persistent neurological problems despite being on treatment.
• Anaemia.
• Jaundice.

Expectations (prognosis)

Unfortunately, as the disease progresses, the liver function will continue to decline leading to complications and eventually result in death.  However, liver transplantation may increase long-term survival up to 80%.

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