What happens if Wilson's disease is not treated?

Without treatment, Wilson's disease leads to progressive liver failure, severe brain damage, and death. Early and continuous treatment can prevent these outcomes and allow a normal lifespan.

Is Wilson's disease curable?

Wilson's disease cannot be cured, but it is very treatable. Lifelong medication to remove excess copper and prevent reaccumulation allows most patients to live normal, healthy lives.

How is Wilson's disease inherited?

Wilson's disease follows an autosomal recessive pattern, meaning both parents must carry a mutation in the ATP7B gene. Each child of two carriers has a 25% chance of having the disease.

GeneticICD-10: E83.0Affects approximately 1 in 30,000 people worldwide

Wilson's Disease

Also known as: Hepatolenticular degeneration

Wilson's disease is a rare inherited disorder in which excess copper accumulates in the liver, brain, eyes, and other organs because the body cannot eliminate copper properly. If left untreated, copper buildup can cause life-threatening liver failure and irreversible neurological damage. Early diagnosis and lifelong treatment with copper-chelating agents can prevent or reverse most symptoms.

Symptoms

Fatigue and abdominal pain from liver involvement

Jaundice and liver enlargement

Tremors, difficulty walking, and muscle stiffness

Speech and swallowing difficulties

Psychiatric symptoms including depression, anxiety, and personality changes

Kayser-Fleischer rings (golden-brown rings around the iris)

Easy bruising and prolonged bleeding

Causes

Mutations in the ATP7B gene affecting copper transport
Autosomal recessive inheritance
Inability of the liver to excrete copper into bile

Risk Factors

Both parents carrying the ATP7B gene mutation
Family history of Wilson's disease
Most commonly diagnosed between ages 5 and 35

Diagnosis

Serum ceruloplasmin levels (typically low)
24-hour urine copper excretion (typically elevated)
Slit-lamp examination for Kayser-Fleischer rings
Liver biopsy measuring copper concentration
Genetic testing for ATP7B mutations

Treatment

Copper-chelating agents such as penicillamine or trientine
Zinc supplements to block copper absorption
Low-copper diet avoiding shellfish, liver, nuts, and chocolate
Liver transplant for acute liver failure or end-stage liver disease
Lifelong treatment is essential to prevent copper reaccumulation

Prevention

No prevention for the genetic condition itself
Genetic counseling and testing for family members of affected individuals
Early treatment prevents organ damage

When to See a Doctor

Unexplained liver disease or abnormal liver function tests
Neurological symptoms such as tremors or difficulty speaking in a young person
Family member diagnosed with Wilson's disease
Psychiatric symptoms in a young person with liver abnormalities

Frequently Asked Questions

Related Conditions

Cirrhosis

Digestive

Parkinson's Disease

Neurological

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