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Thursday, February 20, 2020

Wilson Disease: Causes, Symptoms, Diagnosis and Treatment


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Emmanuel Ekokotu
Ekokotu Emmanuel Eguono is a mass communicator and fashion designer. When he is not behind a laptop screen or on a sewing machine, he spends his time netflixing and swimming.

Wilson disease is also known as hepatolenticular degeneration. It is a rare genetic disorder which results in the excessive accumulation of copper in the body. It affects about 1 in every 30,000 people.


For an individual to have this disease he or she must have inherited a particular genetic mutation from not one but both parents.

The accumulation of copper tends to be very abnormal and ends up affecting the eyes, liver, kidney and even sometimes, the heart.

The manifestation of Wilson disease begins very early in life most likely between the age of 5 and 35. The complication of the disease can include kidney problem and liver failure.

Many people with the Wilson disease live normal lives so you can talk to your doctor if your family has a history of Wilson disease. You can stop the progression of the Wilson disease if it is early diagnosed.

The treatment can involve taking medication or having a liver transplant so you have to talk to your doctor to avoid other life-threatening conditions.


The Wilson disease is very difficult to diagnose due to its wide array of symptoms.

The symptoms are mostly similar to that of other health conditions like hepatitis C, cerebral palsy and even heavy metal poisoning.

The doctor will conduct a series of tests to look for damages caused by copper accumulation.

Liver Biopsy

The doctor will recommend a liver biopsy so as to measure the severity of copper accumulation.


You would stop some medications if you have to go through with the liver biopsy. A local anaesthetic will be applied before inserting a needle to take out a tissue sample.

If you end up having the disease, it will be advisable for other members of your family to have the genetic test done too.

This is required to know if they are at risk of passing on Wilson’s disease.

Imaging Test

Computerized tomography (CT) scan will help show any brain abnormalities.

It does not really help to diagnose the condition but it helps to determine how advanced the condition is.

In this test the doctor will check for weak brain stem signals and damage to the brain and liver.

Physical test

In this test, the doctor will;

  • Check for sunflower cataracts in your eyes with a bright light
  • Listen for sounds in your abdomen
  • Test your memory skills
  • Examine your body

Lab test

To carry out this test, your doctor will draw out samples and have them checked at the lab for:

  • a mutated gene
  • Signs of low blood sugar
  • Copper level in the blood
  • Abnormalities in your liver enzymes

Symptoms of the Wilson Disease

The sign and symptoms of the Wilson disease can be mistaken for that of other diseases.

Liver Related Symptoms

Since the accumulation of copper tends to be in the liver and brain first, the symptoms most times appear in these organs. Sometimes the symptoms of liver dysfunction are similar to those of hepatitis.


As the damage to the liver increases, the individual may experience serious deadly event in the body such as liver failure and even internal bleeding.

The common liver-related symptoms are;

  • Fatigue
  • Weakness
  • Jaundice (yellowing of the eyes and skin)
  • Loss of appetite
  • Vomiting
  • Swelling of legs and abdomen
  • Bloating in the abdomen
  • Weight loss
  • Visible branch like blood vessels on the skin
  • Itching

Your doctor will also have to conduct a different test to confirm Wilson disease because some of the symptoms like jaundice are also related to kidney and liver disease.

Neurological Symptoms

Acute liver failure is known by the development of a form of anaemia called hemolytic anaemia in which red blood cells will eventually rupture and die.

Red blood cells contain triple the amount of ammonia as plasma which is the liquid component of blood. The destruction of the cells can cause the quick buildup of ammonia in the bloodstream.

As soon as the substance start irritating the brain, the individual may develop hepatic encephalopathy which is the loss of brain function due to liver disease.

Symptoms include;

  • Insomnia
  • Depression
  • Vision impairment
  • Personality changes
  • Migraines
  • Memory loss
  • Mobility problems and loss of balance

Sunflower cataract and Kayser-Fleischer rings

The doctor also checks for sunflower cataracts and Kayser-Fleischer rings in the eyes.

Sunflower cataracts tend to show up in 1 out of 5 people with Wilson disease. This is a distinctive multicoloured centre with spokes that radiate outward.

Kayser-Fleischer rings are abnormal golden-brown discolourations in the eyes that are caused by deposits of excess copper. K-F rings show up in about 97 percent of people with Wilson disease.


Other Symptoms

  • Arthritis
  • Low blood pressure
  • Lack of bone density
  • Weakness of the heart(cardiomyopathy)
  • Infertility as a result of thyroid impairment
  • Menstrual irregularities

When it occurs in the kidney, Wilson’s disease can cause fatigue, muscle weakness, confusion, kidney stones, and blood in urine due to excess acids in the blood.

The disease can also cause the excessive deposit of calcium in the kidneys and the weakening of bones due to the redistribution and loss of calcium.

Causes of Wilson Disease

Wilson disease, as said earlier, is an inherited genetic disorder which means both parents must be carriers of the genetic mutation.

The carriers of the disease may have abnormal copper metabolism but it does not really warrant medical intervention.

A mutation in the ATP7B gene which codes for copper transportation causes Wilson’s disease. The mutation of the gene prevents this process which also interferes with the excretion of copper from the body.

The gene can skip a generation, so you may want to look further than your parents or take a genetic test to ascertain if you have the disease.


Wilson disease is passed down from parents to their children. If parents have one child with the disease, they could practically have other children with the disease.

This disease cannot be prevented but you can slow down the onset of the condition.

If you find out that you have Wilson’s disease early enough, you may be able to prevent symptoms from surfacing by taking medications such as Zinc.

Also, parents can determine the potential risk of passing the disease to their children by consulting a genetic specialist.



People with the disease are often treated in three stages. The treatments are for a lifetime because once you stop them copper can build up again.

First stage

The first treatment is the use of copper-chelating drugs like syprine and penicillamine to remove excess copper from the body.

Penicillamine is usually the first choice for the drug. It works by binding with copper allowing the metal to be more readily excreted in the urine.

The potential side effect of penicillamine includes rash, fever, bone marrow issues, joint pain and muscle weakness.

Second stage

The main aim of the second stage is to maintain a normal level of copper after removal.

Once the copper level is normalized, zinc may be prescribed as a form of maintenance therapy.

Zinc is taken orally as salt keeps the body from absorbing copper from foods. The common side effect is stomach ache.

Children with Wilson disease but no symptoms may want to take zinc to prevent the disease from worsening.

Third stage

After the symptoms may have improved and your copper levels are normal, you’ll want to focus on long-term maintenance therapy.

This includes continuing zinc or chelating therapy and regularly monitoring your copper levels.


Dietary changes will also ensure that you avoid consuming unneeded copper. Foods to be avoided include mushrooms, liver, dried fruits, peanut butter, shellfish, multivitamin and nuts.

Medications take up to five to six months in an individual who has the symptoms. An individual who fails to respond to these treatments might require a liver transplant.

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