Wilson's disease

What is Wilson's Disease?

Wilson's disease is a rare genetic disorder that causes an accumulation of copper in the body, leading to copper toxicity. It is caused by a mutation in the ATP7B gene, which is responsible for regulating copper metabolism in the body. Wilson's disease can affect various organs, including the liver, brain, eyes, and other parts of the body. 

Symptoms of Wilson's disease can vary widely but may include fatigue, abdominal pain, jaundice (yellowing of the skin and eyes), neurological symptoms (such as tremors, difficulty speaking, or uncoordinated movements), psychiatric symptoms (such as mood swings, depression, or anxiety), and other related symptoms. 

When is it necessary to see a doctor?

If you suspect you may have Wilson's disease or have a family history of the condition, it is important to see a doctor for proper diagnosis and management. Prompt medical evaluation and treatment are crucial to prevent or manage complications associated with Wilson's disease. Treatment for Wilson's disease typically involves lifelong management to reduce copper levels in the body through medication, dietary changes (such as avoiding high-copper foods), and regular monitoring by a healthcare professional. If left untreated, Wilson's disease can result in serious complications, such as liver damage, neurological damage, or other health problems. Diagnosis of Wilson's disease typically involves a combination of medical history review, physical examination, laboratory tests (such as blood tests and urine tests), imaging studies (such as liver ultrasound or MRI), and genetic testing.