Copper, the mineral copper, is essential for the healthy functioning of all of us in very small amounts. But imagine what happens if this essential copper accumulates in the body in excess of the required amount? That is when a rare but potentially serious condition called Wilson's Disease occurs. Don't be afraid to hear this. It can be managed successfully by being properly informed about it and seeking proper treatment. Today, we will talk about this simply, in language that you can understand.
What exactly is Wilson's disease?
Simply put, Wilson's disease is a genetic disease . It is passed down from generation to generation. The liver is the main organ in our body that filters out copper that enters our body. It's like a water filter. But in a person with Wilson's disease, there is a defect in a gene (the `ATP7B` gene) related to this copper filtering process.
This causes the liver to not be able to do its job properly. As a result, the extra copper starts to accumulate in major organs like the liver, brain, and eyes instead of being eliminated from the body. Over time, this accumulation of copper can damage these organs and cause various symptoms.
The important thing is that since this is a genetic disease, in order for the disease to occur, the child must inherit this defective gene from both the mother and the father. If it is inherited from only one parent, the symptoms will not appear, but that person may be a carrier of the disease. This means that they may pass this gene on to their children.
What are the symptoms of this disease?
The symptoms of Wilson's disease do not appear immediately. Since copper takes some time to accumulate in the body, symptoms begin to appear after some time. Also, the symptoms may vary depending on the organ in which the copper is most deposited. Let's see what these main symptoms are.
| Affected organ/system | Visible symptoms |
|---|---|
| Liver-related symptoms | |
| Liver |
|
| Neurological symptoms related to the brain and nervous system | |
| Brain |
|
| Ocular symptoms | |
| Eyes | This is a very specific symptom. A golden-brown ring appears around the black eye. Doctors call this Kayser-Fleischer rings . This is the main sign of copper deposits inside the eye. Some people may also develop sunflower cataracts, which look like sunflowers. |
Other features
In addition to the main symptoms mentioned above, several other problems can occur due to increased copper in the body.
- Kidney stones
- Irregular menstrual cycles in women
- Low bone density and arthritis conditions
- Blue discoloration of the nails
Who is at higher risk of developing this disease?
Since this is a genetic disease, the main risk factor is family history .
If someone in your family, especially your parents, brother, or sister, has Wilson's disease, you are at risk of developing the disease or becoming a carrier.
Symptoms usually begin to appear between the ages of 5 and 40. However, there have been reports of symptoms appearing at a much younger age, including in a 9-month-old baby and in a 70-year-old adult.
If someone in your family has this disease, the best thing to do is to see your doctor and talk about it without any hesitation. If necessary, genetic testing can be done to confirm the condition.
How is it treated?
Although hearing about Wilson's disease can be scary, the good news is that there are effective treatments for it . Treatment has two main goals.
1. Removing excess copper that has already accumulated in the body:
For this, doctors prescribe a special type of medicine. These are called `chelating agents`. These medicines work by attaching to the extra copper particles in the body and removing them from the body through the urine. When this treatment is continued, the copper level in the body can be controlled. However, while taking these medicines, the healing of wounds may be delayed. Therefore, if you are going to have surgery, you should tell your doctor about it in advance.
2. Preventing the absorption of copper from food into the body:
Zinc supplements are prescribed for this. Zinc reduces the absorption of copper in the digestive system. Sometimes, doctors start this zinc treatment even in people who have been diagnosed with the disease but have not yet developed symptoms.
It is very important to take this treatment for the rest of your life , as your doctor recommends, without missing a single day. Your doctor may also advise you to limit foods high in copper (e.g. shellfish, liver, chocolate, nuts).
Take-Home Message
- Wilson's Disease is a rare genetic disease caused by the accumulation of copper in the body.
- This mainly affects the liver, brain, and eyes.
- The main symptoms may include unexplained jaundice, personality changes, and a golden-brown ring around the black eye (Kayser-Fleischer ring).
- If anyone in your family has this disease, see your doctor immediately for advice, even if there are no symptoms.
- Early detection and lifelong treatment can help you live a healthy, normal life. Never stop treatment without medical advice.
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