Wilson's Disease

Wilson disease can be challenging to diagnose due to its varied presentation. Common diagnostic tests include:

• Blood tests: Low serum ceruloplasmin (a copper-carrying protein), abnormal liver function tests
• 24-hour urinary copper excretion
• Slit-lamp eye exam for Kayser-Fleischer rings
• Liver biopsy to measure copper concentration
• Genetic testing for ATP7B mutations

Testing is also recommended for all siblings of an affected person.

There is no universally accepted staging system, but disease progression can be viewed in phases:

• Presymptomatic stage: No symptoms, but abnormal copper metabolism
• Hepatic stage: Liver involvement, possibly progressing to cirrhosis or liver failure
• Neurological/psychiatric stage: Tremors, dysarthria, or behavioral changes appear
• Advanced stage: Severe liver damage or neurodegeneration

Early diagnosis can halt or reverse disease progression.

Treatment focuses on removing excess copper and preventing reaccumulation.

• Chelation therapy: Penicillamine or Trientine binds copper for urinary excretion
• Zinc therapy: Blocks copper absorption from the intestines
• Dietary modifications: Avoid foods high in copper: liver, shellfish, chocolate, mushrooms, nuts
• Liver transplant: Reserved for patients with acute liver failure or decompensated cirrhosis

Lifelong treatment is necessary. With proper management, patients can expect a near-normal lifespan.