Wilson's disease is a rare genetic disorder in which copper builds up in the body. It is also called progressive lenticular degeneration.
The liver normally filters extra copper from the body, excreting it through the urine. However, the liver does not function properly in cases of Wilson's disease, leading to a buildup of copper in the eyes, liver, and brain.
Early diagnosis and treatment of the condition are important in order to prevent liver failure or brain damage. Treatment could range from medication to a liver transplant, depending on how severe the symptoms are.
If a close relative or one of your parents has Wilson's disease, speak to your doctor about early interventions. Most people with Wilson's disease can live healthy lives with proper treatment. Early diagnosis and treatment help ensure this.
What Is the Cause of Wilson's Disease?
The leading cause of Wilson's disease is a mutation or change in the ATP7B gene. This gene codes for the transportation of copper in the body. If it does not form correctly or is absent, you could have Wilson's disease.
Copper is essential for different body functions, but when there’s too much of it, it can be toxic.
Since Wilson's is considered a genetic autosomal recessive disease, you must inherit the mutated gene from each parent to get the disease. If you inherit it from one parent, you won’t have symptoms, but you may pass it on to your children.
A genetic test could show if there's a mutation in the gene that causes Wilson's disease.
What Are the Symptoms of Wilson’s Disease?
The symptoms of Wilson's disease appear in different parts of the body, with the disease affecting one or more organs.
In cases where Wilson's disease affects the liver, symptoms include:
- Itching
- Loss of appetite
- Nausea
- Tiredness
- Vomiting
- Weakness
- Weight loss
If the disease progresses, you may experience muscle cramps, jaundice, pain in the abdomen (belly) region, and spider angiomas, a condition in which blood vessels form a visible branch-like pattern on the skin.
Since some symptoms, like jaundice, are a common symptom of other conditions, your doctor will conduct other diagnostic tests before confirming the presence of Wilson's disease.
If Wilson's disease has caused copper accumulation in your brain, you could have the following symptoms:
- Personality changes
- Insomnia, inability to sleep
- Drooling
- Improper walking
- Memory or vision problems
- Speech issues
- Changes in mood
- Depression
- Migraines
If the symptoms advance, you may experience pain while moving, seizures, and muscle spasms.
Wilson's disease can also cause mental health problems, such as psychosis, behavior disorders, anxiety, and depression.
A prominent symptom of Wilson's disease is "sunflower eyes" or sunflower cataracts. These appear in the eyes as a multicolored center with spokes coming out of it.
Kayser-Fleischer rings are another sign of Wilson's disease. These appear as golden-brown discoloration inside the eyes. The brown color is due to copper deposition in the eyes. Kayser-Fleischer rings are visible in most people with Wilson's disease.
Other signs that your body may have too much copper include:
- Irregular menstrual cycle
- Arthritis
- Kidney stones
- Low blood pressure
- Low bone density
- Blue color in the nails
What Is the Treatment for Wilson's Disease?
Wilson's disease is treated with medications that remove extra copper in your body. These medicines, called chelating agents, bind to copper and are released in the urine. With continued use, they can remove a significant amount of copper.
However, chelating agents also slow down the process of wound healing. Therefore, if the doctor has scheduled you for surgery, they will lower your dose of these medicines.
Another treatment for Wilson's disease is zinc supplements. Zinc prevents copper absorption in the intestines. Your doctor might even prescribe zinc if you have the disease but haven't started seeing symptoms yet.
Who Is at Risk of Wilson's Disease?
If you have a family history of Wilson's disease, your risk of having this genetic disorder is higher. The chances increase even more if the family member is your sibling or parent.
Typically, you start seeing the symptoms between ages 5 and 40. Some people, though, may develop symptoms earlier or later in life. In some cases, doctors have found symptoms of the condition in babies as young as nine months and adults at age 70.