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Wilson Disease (Detailed)

Inherited copper metabolism disorder with hepatic and neurologic disease

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.

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 Disease (Detailed)?

Wilson disease results from biallelic mutations in ATP7B, encoding a copper-transporting ATPase in hepatocytes.

Defective ATP7B impairs copper incorporation into ceruloplasmin and copper excretion into bile, causing toxic accumulation initially in the liver and later in the brain and other organs.

Prevalence is approximately 1 in 30,000 with carrier frequency around 1 in 90.

Onset typically between ages 5 and 35, with hepatic presentation more common in children and neuropsychiatric presentation more common in adults.

Key diagnostic findings include low serum ceruloplasmin, elevated 24-hour urinary copper, Kayser-Fleischer rings on slit-lamp examination, and high hepatic copper on biopsy.

Symptoms

Asymptomatic transaminase elevation discovered incidentally
Acute hepatitis, chronic hepatitis or cirrhosis with portal hypertension
Acute liver failure with Coombs-negative hemolytic anemia (a fulminant Wilsonian crisis)
Tremor, dystonia, dysarthria, drooling, parkinsonism, gait disturbance
Personality change, depression, psychosis, decline in school or work performance
Kayser-Fleischer rings (golden-brown copper deposition in Descemet membrane)
Sunflower cataracts on slit-lamp examination
Renal tubular dysfunction (Fanconi syndrome), arthropathy, cardiomyopathy

Risk Factors

Family history of Wilson disease (sibling risk 25 percent)
Consanguineous parentage
Ethnic populations with founder mutations (Eastern European, Sardinian, Greek, Saudi Arabian)
Age 5–35 years (presentation can occur outside this window)
Unexplained liver disease in adolescents or young adults

When to See a Doctor?

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

  • Unexplained persistent transaminase elevation in young patients
  • Acute liver failure especially with hemolysis
  • New movement disorder or psychiatric symptoms in a young adult
  • Sibling diagnosed with Wilson disease (screen all first-degree relatives)
  • Coombs-negative hemolytic anemia in adolescents or young adults

Treatment Methods

01
Lifelong copper chelation: D-penicillamine or trientine as first-line; trientine often preferred for tolerability
02
Zinc salts (acetate or sulfate) as maintenance or in pre-symptomatic patients to block intestinal copper absorption
03
Strict dietary copper restriction: avoid liver, shellfish, mushrooms, nuts, chocolate; check water copper content
04
Liver transplantation for fulminant hepatic failure or decompensated cirrhosis unresponsive to medical therapy
05
Slow titration of chelators in neurologic Wilson to avoid initial neurologic worsening
06
Family screening of all first-degree relatives by genetic testing or biochemical workup
07
Long-term follow-up monitoring of 24-hour urinary copper, liver enzymes, full blood count and neurologic status

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.