Wilson disease is a rare genetic disorder that affects the body’s ability to remove excess copper. This leads to copper accumulation in various organs, particularly the liver and brain. The disease is caused by mutations in the ATP7B gene, which is responsible for regulating copper levels in the body.
Symptoms of Wilson disease can vary widely depending on the organs affected and the severity of the copper buildup. Common symptoms include fatigue, loss of appetite, abdominal pain, jaundice (yellowing of the skin and eyes), and neurological issues such as tremors, difficulty walking, and speech problems.
Diagnosis of Wilson disease involves a combination of tests to measure copper levels in the body, including blood and urine tests, as well as genetic testing to identify mutations in the ATP7B gene.
The common symptoms of the disease includes:
1. Fatigue and weakness
2. Loss of appetite
3. Nausea and vomiting
4. Abdominal pain and discomfort
5. Jaundice (yellowing of the skin and eyes)
6. Itching
7. Swelling in the legs and abdomen
8. Spider angiomas (visible branch-like blood vessels on the skin)
9. Muscle cramps and spasms
10. Speech difficulties
11. Tremors and difficulty with coordination
12. Changes in mood and behavior
13. Depression
14. Migraines
15. Vision problems
16. Kayser-Fleischer rings (a greenish-gold ring around the edge of the cornea)
Treatment for Wilson disease is aimed at reducing copper levels in the body and preventing further buildup. This can be achieved through the use of medications that bind to copper and remove it from the body, as well as dietary changes to limit the intake of copper-rich foods. In severe cases, a liver transplant may be necessary.
Wilson disease is a lifelong condition that requires ongoing management and monitoring. With proper treatment and care, however, individuals with Wilson disease can lead relatively normal lives.
