Wilson’s disease is a rare genetic disorder that causes excessive copper buildup in the liver, brain, and other organs, potentially becoming life-threatening if left untreated. In individuals with Wilson’s disease, the body is unable to eliminate copper effectively, leading to its accumulation in vital organs.
Symptoms of Wilson’s Disease
Although Wilson’s disease is present from birth, symptoms usually begin to appear around the age of 12, when copper starts accumulating in the brain, liver, or other organs. The signs and symptoms can vary based on which organs are affected and may include:
- Fatigue
- Loss of appetite or weight
- Swelling
- Abdominal pain
- Jaundice (yellowing of the skin and eyes)
- Fluid retention in the legs or abdomen
- Difficulty with speech, swallowing, or physical coordination
- Uncontrolled movements or muscle stiffness
Causes of Wilson’s Disease
Wilson’s disease is primarily caused by genetic mutations that affect copper metabolism in the body. Common contributing factors include:
- Family history of the disease
- Consumption of contaminated water
- Certain dietary supplements
Complications of Wilson’s Disease
If left untreated, Wilson’s disease can lead to severe, life-threatening complications, particularly affecting the liver and other organs. Potential complications include:
- Liver failure
- Kidney problems
- Anemia
- Jaundice
- Neurological issues
- Cirrhosis
Diagnosis of Wilson’s Disease
Diagnosing Wilson’s disease can be complex, as symptoms may not be immediately clear. To confirm the diagnosis, several tests and procedures may be conducted, including:
- Liver biopsy
- Blood tests
- Urine tests
- Genetic testing
- Eye examination to check for Kayser-Fleischer rings, which are copper deposits visible in the eyes
Treatment for Wilson’s Disease
The treatment approach for Wilson’s disease depends on the diagnosis and severity of the condition. Common treatment options include:
- Prescription medications
- Lifestyle adjustments
- Home care strategies
- Liver transplantation in severe cases
