Wilson’s Disease

Medical Review

Written by: Dr. Von Chiao Wen Doctor of Medicine (MD), N.I. Pirogov Russian National Research Medical University
Reviewed by: Dr. Lee Chin Meng Doctor of Medicine (MD), Manipal Academy of Higher Education (MAHE)

Overview of Wilson’s Disease

Wilson disease is a rare condition which is commonly due to genetic factor. It is an autosomal recessive type of inheritance which affects the copper metabolism where there will be excessive amount of copper in the body.

Signs and Symptoms of Wilson’s Disease

Fatigue, Lack of appetite, Abdominal pain, Jaundice, Golden-brown eye discoloration (Kayser-Fleischer rings), Ascites & edema, Problems with speech or swallowing or physical coordination, Uncontrolled movements or muscle stiffness

Common Causes of Wilson’s Disease

Genetic factor

Risk Factors of Wilson’s Disease

Family history with same disease

Investigation Techniques for Wilson’s Disease

Liver function test, 24 Hour urine copper, Serum copper, Serum ceruloplasmin, Slit lamp examination, Liver biopsy

Treatment and Prevention of Wilson’s Disease

Diet : Avoid foods with high copper content, Lifelong Penicillamine, Screen siblings, Liver transplantation

Available Wilson’s Disease Medicines

No medicines currently available for this condition.

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