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Wilson Disease

A genetic disease characterized by excessive copper accumulation in liver and brain due to disrupted copper metabolism.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

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

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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 Disease?

Wilson disease is an autosomal recessive hereditary disease characterized by accumulation of copper in the liver, brain and other organs due to mutation of the ATP7B gene that enables copper excretion via bile. The incidence is 1 in 100,000, with a gene carrier rate of approximately 1/90.

The disease usually manifests between 5-35 years; rarely diagnosed over age 40. Copper first accumulates in the liver and leads to hepatitis, cirrhosis or acute liver failure. Over time, copper also spreads to the basal ganglia of the brain, eyes and kidneys.

Kayser-Fleischer rings (golden-brown rings around the cornea due to copper deposition), low serum ceruloplasmin and increased urinary copper in 24-hour urine are key diagnostic findings. ATP7B genetic testing provides definitive diagnosis.

Symptoms

Liver disease symptoms: jaundice, fatigue, abdominal swelling
Neurological symptoms: tremor, coordination disorder, speech difficulty
Psychiatric symptoms: personality change, depression, psychosis
Kayser-Fleischer rings (on eye examination)
Hemolytic anemia
Renal tubular dysfunction (Fanconi syndrome)
Joint pain and bone problems

Risk Factors

ATP7B gene mutation (carrier from both parents)
Family history of Wilson disease
Communities with high consanguineous marriage rates

When to See a Doctor?

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

  • If there is unexplained liver disease in a young individual
  • If neurological or psychiatric symptoms are seen together with liver findings
  • If there is family history of Wilson disease (for sibling screening)
  • If Kayser-Fleischer ring has been detected

Treatment Methods

01
D-penicillamine: copper chelator, first-line treatment (in symptomatic cases)
02
Trientine: alternative chelator in cases intolerant to D-penicillamine
03
Zinc acetate/sulfate: prevents copper absorption in presymptomatic cases and maintenance therapy
04
Low-copper diet (restriction of organ meats, shellfish, nuts)
05
Liver transplantation in acute liver failure
06
Lifelong medication compliance and regular follow-up

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.

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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.