Wilson's Disease

Wilson's disease

Wilson's disease is a genetic disorder that prevents the body from eliminating extra copper, which leads to excessive accumulation of copper in the liver and brain causing life threatening organ damage. The condition is caused by mutation in the Wilson disease protein (ATP7B) gene.

Symptoms –

Symptoms begin between the ages of 12-23yrs and vary depending on what organ of the body is affected:

i)             Liver – Fatigue, jaundice, edema, muscle cramps, loss of appetite

ii)            Central nervous system – Tremors, physical coordination

iii)          Mental health – Psychosis, Depression

iv)          Others - Anemia, osteoporosis, arthritis.

Diagnosis & Treatment –

 Diagnosis is done through blood test, liver biopsy, imaging test and genetic testing. Common medication includes, chelating agent-to remove extra copper, zinc-to block the digestive tract absorbing copper from food  and liver transplant.