Wilson disease is caused by mutations in the ATP7B gene, which normally produces a protein responsible for transporting copper out of the liver and into bile for elimination. When this gene doesn't work properly, copper accumulates in the liver first, then spills over into other organs, causing damage.

Copper is actually essential for our health — we need small amounts for:

• Making red blood cells
• Maintaining healthy bones and blood vessels
• Supporting our immune system
• Helping with iron absorption

However, too much copper becomes toxic. In Wilson disease, the body absorbs normal amounts of copper from food but cannot eliminate the excess, leading to dangerous buildup.

Wilson disease symptoms can vary greatly depending on which organs are affected and the person's age when symptoms begin.

Liver-Related Symptoms:

• Fatigue and weakness
• Loss of appetite
• Nausea and vomiting
• Abdominal pain
• Yellowing of skin and eyes (jaundice)
• Fluid buildup in the abdomen
• Easy bruising or bleeding

Brain and Nervous System Symptoms:

• Tremors (shaking), especially in hands
• Difficulty walking or clumsiness
• Slurred speech
• Difficulty swallowing
• Muscle stiffness
• Personality changes
• Depression or mood swings
• Problems with memory and thinking

Eye Signs:

• Kayser-Fleischer rings: Golden-brown rings around the colored part of the eye (iris)
• These rings are present in about 90% of people with neurological symptoms
• They're usually only visible with special eye examination equipment

Other Symptoms:

• Joint pain and arthritis
• Kidney problems
• Heart rhythm abnormalities
• Bone thinning (osteoporosis)
• Menstrual irregularities in women

Children and Teenagers (5–17 years):

• Usually present with liver problems first
• May have no symptoms initially despite copper buildup
• Liver disease can range from mild inflammation to severe cirrhosis

Young Adults (18–30 years):

• Most commonly develop neurological symptoms
• May have psychiatric symptoms like depression or behavioral changes
• Often have both liver and brain involvement

Adults (30+ years):

• Less common but can occur
• Usually have neurological symptoms
• May be misdiagnosed as other conditions initially

Clinical Evaluation:

Doctors look for the combination of:

• Liver disease of unknown cause
• Neurological symptoms
• Family history of Wilson disease
• Kayser-Fleischer rings in the eyes

Serum Ceruloplasmin

• A protein that carries copper in the blood
• Usually decreased in Wilson disease (less than 20 mg/dL)
• However, can be normal in some patients

24-Hour Urine Copper

• Measures copper excretion in urine
• Elevated levels (greater than 100 micrograms/day) suggest Wilson disease
• May be even higher after taking a chelating medication

Liver Copper Content

• Measured through liver biopsy
• Most definitive test
• Copper levels greater than 250 micrograms/gram dry weight indicate Wilson disease

Genetic Testing

• Can identify mutations in the ATP7B gene
• Helpful for confirming diagnosis
• Important for screening family members

Imaging Studies

• Liver ultrasound or CT: To assess liver damage
• Brain MRI: To look for characteristic changes in the brain
• Eye examination: To check for Kayser-Fleischer rings

The good news is that Wilson disease is treatable! Early diagnosis and treatment can prevent organ damage and allow people to live normal lives.

Copper Chelation Therapy:

These medications bind to copper and help remove it from the body through urine.

Penicillamine (Cuprimine)

• How it works: Binds to copper and increases its excretion in urine
• Dosage: Usually 1–2 grams daily, taken on empty stomach
• Benefits: Very effective at removing copper
• Side effects:
• Nausea and vomiting
• Skin rashes
• Kidney problems
• Bone marrow suppression
• Lupus-like syndrome
• Monitoring: Regular blood tests, urine tests, and physical exams

Trientine (Syprine)

• How it works: Similar to penicillamine but with fewer side effects
• Dosage: 1–2 grams daily, taken on empty stomach
• Benefits: Better tolerated than penicillamine
• Side effects:
• Less common than penicillamine
• Occasional nausea
• Rare neurological worsening initially
• When used: Often preferred over penicillamine, especially for neurological symptoms

Zinc Acetate (Galzin)

• How it works: Blocks copper absorption from the intestine
• Dosage: 50 mg three times daily, taken away from meals
• Benefits:
• Fewer side effects than chelators
• Safe for long-term use
• Can be used during pregnancy
• Side effects:
• Stomach upset
• Gastric irritation
• When used:
• Maintenance therapy after initial chelation
• For presymptomatic patients
• During pregnancy

Foods to Avoid or Limit:

• Liver and organ meats (very high in copper)
• Shellfish (oysters, crab, lobster)
• Nuts (especially cashews, Brazil nuts)
• Chocolate and cocoa
• Mushrooms
• Avocados
• Dried fruits

Foods That Are Generally Safe:

• Most fruits and vegetables
• Dairy products
• Eggs
• Most grains and cereals
• Chicken and turkey
• Fish (except shellfish)

Water Considerations:

• Avoid drinking water from copper pipes
• Use filtered or bottled water if copper levels are high
• Consider water testing if you have copper plumbing

When is it needed?

• Severe liver failure that doesn't respond to medical therapy
• Acute liver failure at presentation
• Advanced cirrhosis with complications

Success rates:

• Generally excellent outcomes
• Liver transplant essentially "cures" Wilson disease
• No need for copper-removing medications after successful transplant

Phase 1: Initial Treatment (De-coppering)

• Duration: 6–12 months
• Goal: Remove excess copper from organs
• Medications: Usually penicillamine or trientine
• Monitoring: Frequent blood and urine tests

Phase 2: Maintenance Treatment

• Duration: Lifelong
• Goal: Prevent copper reaccumulation
• Medications: Often switch to zinc or lower doses of chelators
• Monitoring: Regular but less frequent monitoring

Regular Tests Required:

• Blood tests: Every 3–6 months
• Liver function tests
• Blood cell counts
• Kidney function
• Urine tests: 24-hour copper excretion
• Eye exams: Annual check for Kayser-Fleischer rings
• Neurological evaluation: For patients with brain symptoms

What to Watch For:

• Improvement signs: Better liver function, reduced neurological symptoms
• Warning signs: Worsening symptoms, new side effects from medications
• Complications: Kidney problems, blood disorders

Medication Compliance:

• Take medications exactly as prescribed
• Don't stop treatment without medical supervision
• Copper will reaccumulate if treatment is stopped
• Set reminders to take medications consistently

Lifestyle Considerations:

• Diet: Follow copper-restricted diet
• Exercise: Regular physical activity is beneficial
• Alcohol: Limit or avoid alcohol to protect liver
• Pregnancy: Requires special medical management
• Family planning: Genetic counseling recommended

Family Screening:

• Wilson disease is inherited in an autosomal recessive pattern
• Both parents must carry the gene for a child to be affected
• Siblings have a 25% chance of being affected
• Genetic testing and screening recommended for family members

With Early Treatment:

• Excellent long-term outlook
• Most people can live normal lives
• Liver damage may be reversible in early stages
• Neurological symptoms often improve with treatment

Without Treatment:

• Progressive liver damage leading to cirrhosis
• Worsening neurological symptoms
• Eventual organ failure
• Life-threatening complications

• Age at diagnosis: Earlier diagnosis generally means better outcomes
• Organ involvement: Liver-only disease has better prognosis than neurological involvement
• Treatment compliance: Consistent medication use is crucial
• Severity at presentation: Acute liver failure requires immediate intervention

Pregnancy:

• Wilson disease doesn't prevent pregnancy
• Requires specialized medical management
• Zinc therapy is generally preferred during pregnancy
• Regular monitoring is essential

Mental Health:

• Depression and anxiety are common
• May be related to copper toxicity or stress of chronic disease
• Counseling and support groups can be helpful
• Psychiatric medications may be needed

Emergency Situations:

• Acute liver failure requires immediate medical attention
• Sudden worsening of neurological symptoms
• Signs of medication toxicity
• Severe abdominal pain or bleeding

1. Wilson disease is treatable — Early diagnosis and consistent treatment lead to excellent outcomes
2. Lifelong treatment is required — Stopping medication allows copper to reaccumulate
3. Family screening is important — Relatives should be tested
4. Dietary changes help — Avoiding high-copper foods supports treatment
5. Regular monitoring is essential — Frequent follow-up prevents complications
6. Support is available — Connect with healthcare providers and patient organizations

Wilson disease may seem overwhelming at first, but with proper understanding and treatment, people with this condition can lead healthy, productive lives. The key is early diagnosis, consistent treatment, and regular medical follow-up. If you or a family member has been diagnosed with Wilson disease, work closely with your healthcare team to develop the best treatment plan for your specific situation.

Remember: Wilson disease is not a death sentence — it's a manageable condition with excellent treatments available. With proper care, the future is bright for people living with Wilson disease.