Wilson’s Disease: A Comprehensive Overview of the Rare Genetic Disorder Affecting Copper Metabolism in the Brain

Overview

Wilson’s disease is a rare, inherited disorder in which excess accumulation of copper occurs in the liver, brain, or other vital parts of the human body. Though copper is essential for the human body in multiple ways, the presence of its excess amount can lead to many other medical problems. Copper is required in the human body for forming energy-producing enzymes, building connecting tissues, developing new blood cells, balancing hormones, and many other vital processes. But the excess copper in the human body is one of the biggest reasons for Wilson’s Disease.

Causes of Wilson’s Disease

The family history or genetic defect is one of the biggest causes of Wilson’s Disease. Due to the mutation of an ATP7B gene, the genes cannot release the excess copper from the body in the bile juice secreted by the liver. The remaining copper may accumulate in the liver, brain, and other essential body parts. Hence, extra copper inside the body is a massive gateway for many other health issues. The cause can also lead to a medical disorder passed from parent to child. If an individual inherits Wilson’s Disease, the affected individual has the mutated genes from both parents. A person with only affected genes from a single parent cannot be affected by Wilson’s Disease but can act as a carrier for the further generations in the family. Hence, such affected individuals are also one of the risk factors for Wilson’s Disease.

Symptoms of Wilson’s Disease

Signs and symptoms of Wilson’s Disease appear slowly and gradually as the accumulated copper is released into the body. Hence, identifying the signs of Wilson’s Disease can become a task for the affected individual. Mentioned below are some of the symptoms of Wilson’s Disease:

• • Lack of Appetite- Lack of appetite is one of the signs of Wilson’s Disease. The excess copper is released from the body through liver bile juice. In the case of Wilson’s Disease, the excess copper stays inside the body in various parts that can prove fatal if not diagnosed and treated at the right time. Hence, the individual does not feel like eating food.
  • Pale Skin- In the case of Wilson’s Disease, the individual’s body cannot release the excess copper accumulated in the body and this leads to many other health hazards. Pale skin is one of the symptoms of Wilson’s Disease due to liver and brain issues. The issue can be observed in different body parts such as hands, legs, arms, or feet.
  • Eye Discoloration- Eye discolouration is one of the other symptoms of Wilson’s Disease. Excess deposit of copper corneal limbus leads to greenish or brownish rings known as the ‘Kayser-Fleischer Ring.’ Many more eye abnormalities are also observed in persons affected with Wilson’s Disease.
  • Unclear Speech- Wilson’s Disease also affects speech. The affected individual has excess copper deposits in the brain and the liver. Hence, the brain cannot send necessary signals to the mouth and the surrounding parts. The issue is termed dysarthria. In this issue, the individual cannot speak clearly or loudly. Hence, one must immediately rush to a doctor to find the root cause in case of such symptoms. Therefore slurred speech is one of the identifiable symptoms of Wilson’s Disease.
  • Pain in Muscles- Wilson’s Disease also leads to pain in the muscles due to excess deposition of copper in the body. The affected part of the body feels pain and numbness. It leads to the inability to move off the part. Copper deposition in the brain acts as a barrier for the brain to send signals to the body that do not allow the movement of particular body parts. Hence, muscle pain is also a sign of Wilson’s Disease. The issue can be resolved with the help of proper medications and the right treatment on time to avoid the issue being chronic with time.

Treatment Options for Wilson’s Disease

• • Copper Chelating Medicines- Medications for Wilson’s Disease are helpful to lower the symptoms of the medical disorder. Copper-chelating medicines help to lower the excess copper deposition in the body. It is one of the highly-opted treatment options for Wilson’s Disease. According to the situation, many other prescribed medicines help lower the symptom of the medical disorder.
  • Zinc Supplements- Consumption of zinc supplements is also one of the treatment options for Wilson’s Disease. The supplements help to lower the absorption of copper through food. Hence, this allows the body to slowly release accumulated copper and not intake excess copper.
  • Proper Diet- A diet with low copper is one of the treatment options for Wilson’s Disease. It helps to avoid excess consumption of copper and allows the body to release the accumulated copper in the liver and brain. Intake of proper supplements along with a proper diet helps to lower the symptoms of the medical disorder.

When to Consult a Doctor

Timely medical intervention can help cure many of these ailments or help in managing them. You can also get in touch with the expert Neurology doctors at Narayana Healthcare based in your city to get immediate attention and medical support to treat brain conditions, neurological disorders or any other health concern.

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Conclusion

Wilson’s disease is a medical disorder that is genetic for an individual. The affected individual’s mutated parents’ genes pass the medical disorder. The symptoms of Wilson’s Disease can be lowered with the help of proper treatment and medications. Providing medications and required treatment at the right time also helps to lower the symptoms of the disorder and help to lower the excess copper deposition in the body.

FAQs

Q. What is Wilson’s Disease?
A. Wilson’s disease is a genetic disorder caused due to the mutated genes passed on from the parents of the affected individual.

Q. What causes Wilson’s Disease?
A. Wilson’s disease occurs due to mutated genes passed by the parents. The disease occurs only when mutated genes from both parents are passed to the child.

Q. What are the common symptoms of Wilson’s Disease?
A. Lack of appetite, discolouration of skin and eye colour, and muscle cramps are some common symptoms of Wilson’s Disease.

Q. How is Wilson’s Disease diagnosed?
A. Different types of tests, such as blood tests, urine tests, eye exams, biopsies, and genetic testing is required to identify the symptoms of Wilson’s Disease.

Q. What is the treatment for Wilson’s Disease?
A. Proper medications and intake of food items with less copper are some of the treatment options for Wilson’s Disease.