What is Wilson Disease?
Wilson Disease is a rare genetic disorder that affects the body’s ability to eliminate excess copper, leading to copper build-up in organs such as the liver, brain and eyes. This condition affects approximately 1 in 30,000 individuals globally, with about 1 in 90 being carriers.
Wilson Disease can be diagnosed at any age but is commonly detected in individuals between 4 and 40 years old. It affects people of all ethnicities equally, including both males and females.
What causes Wilson Disease?
Wilson Disease is an autosomal recessive disorder. This means that you need to obtain two copies of the defective gene, one from each parent, in order for a person to manifest the features of the disease. The primary risk factor for developing Wilson Disease is a family history of the condition; However, in some cases, particularly in children, the disease may occur without being inherited and the cause of the genetic defect remains unknown.
What are the symptoms of Wilson Disease?
- Loss of appetite
- Jaundice (yellowing of skin and whites of eyes)
- Difficulty sleeping
- Difficulty with speech
- Difficulty with swallowing
- Rigid muscles
- Kayser-Fleischer (the forming of gold or grey-brown rings in the outer part of the eye)
- Personality changes in later years
While Wilson Disease is present at birth, most patients begin to show clinical symptoms between the ages of 5 and 35. Symptoms may vary between patients. With this said, some patients are asymptomatic prior to being diagnosed with Wilson Disease. People with Wilson Disease do not show symptoms until there is copper build-up in their brain, liver, eyes or other organs.
How is Wilson Disease diagnosed?
Wilson Disease is often times screened for using blood tests and confirmed using a 24-hour urine collection to measure the amount of excess copper. Other tests are used to understand the extent of the copper build-up in the body and to understand where the copper is being deposited.
Potential diagnostic measures include:
- Observation of symptoms
- Physical exam
- Eye exam to detect KF rings
- Blood test
- 24-hour urine collection
- Imaging tests (MRI and CT scan)
- Genetic testing to confirm the gene mutation
- Liver biopsy
Patients may need to be admitted to the hospital to undergo the necessary diagnostic measures listed above. This process often involves collaboration among various departments, including hepatology, surgery, nursing, social work and dietetics to ensure comprehensive care.
How is Wilson Disease treated?
Chelation therapy
Medications called chelating agents help remove excess copper from the body. Treatment often begins with a higher dosage to reduce copper levels, followed by a maintenance dose to prevent build-up.
Dietary changes
Patients are advised to follow a low-copper diet, avoiding foods like shellfish, mushrooms and nuts.
Liver transplant
In severe cases where medication is ineffective, a liver transplant may be necessary.
What happens next?
- Early diagnosis and consistent treatment are crucial for managing Wilson Disease.
- Life-long therapy is typically required to maintain copper levels within a safe range, preventing further damage to organs. Regular monitoring through medical check-ups, blood and urine tests, and imaging is essential to track the disease’s progression and adjust treatment plans as needed.
- Adherence to prescribed medications and dietary modifications significantly improves the prognosis and quality of life for patients. It's important for patients and their families to stay informed about the condition, recognize symptoms of potential complications early and seek medical advice promptly.
- In cases where the liver sustains irreversible damage despite treatment, a liver transplant may become necessary. Support from health-care providers, peer networks and resources can help families navigate the challenges of managing Wilson Disease.
Can Wilson disease be prevented?
Since Wilson Disease is a genetic disorder, there is no known way to prevent it entirely; However, early detection through genetic testing in families with a history of the condition can help identify carriers and affected individuals before symptoms develop, allowing for early intervention and better management.
