Wilson's Disease

Copper accumulation in the liver and brain due to a defect in copper metabolism.

Written by: Saygı Hospital Health Guide Editorial Board

Last updated: June 10, 2026

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dahiliye (İç Hastalıkları) department. Book Appointment →

What is Wilson's Disease?

Wilson's disease is an autosomal recessive copper metabolism disorder caused by a mutation in the ATP7B gene. The liver's inability to excrete copper through bile leads to copper accumulation first in the liver and then in the brain, cornea, and kidneys.

The disease usually presents between the ages of 5 and 35. It may manifest as liver involvement (hepatitis, cirrhosis, acute liver failure) or neuropsychiatric involvement (tremor, dystonia, speech disturbances, behavioral changes).

The Kayser-Fleischer ring on the cornea is an important diagnostic finding. With early diagnosis and lifelong copper chelation therapy, disease progression can be halted.

Symptoms

Jaundice and hepatomegaly

Tremor and impaired coordination

Speech difficulty (dysarthria)

Difficulty swallowing

Personality changes and depression

Kayser-Fleischer ring (greenish-brown ring around the cornea)

Risk Factors

Family history of Wilson's disease

Autosomal recessive inheritance (both parents carriers)

Unexplained liver disease at a young age

Unexplained neuropsychiatric symptoms

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

If signs of liver disease appear at a young age
If unexplained tremor and movement disorder develop
If there is a family history of Wilson's disease (family screening)
If ceruloplasmin level is found to be low

Treatment Methods

Copper chelation therapy with D-penicillamine

Trientine (alternative when D-penicillamine is not tolerated)

Zinc sulfate (to reduce copper absorption)

Avoidance of copper-rich foods (liver, shellfish, chocolate)

Liver transplant in fulminant liver failure

Which Department to Visit?

You can visit our Dahiliye (İç Hastalıkları) department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Dahiliye (İç Hastalıkları) Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.