DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Wilson Disease

HIGH SEVERITY

A rare inherited disorder of copper metabolism caused by ATP7B gene mutations. Copper accumulates in liver, brain, cornea (Kayser-Fleischer rings), and kidneys. Fatal if untreated but excellent prognosis with early treatment.

Global Affected

30.0K

Countries

15

Symptoms

Liver disease
Neurological symptoms (tremor, dystonia)
Psychiatric symptoms
Kayser-Fleischer rings
Anemia
Kidney stones
Joint pain
Fatigue

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Excellent with lifelong treatment. Normal lifespan if treated before severe liver or neurologic damage. Liver transplant curative for fulminant liver failure. Treatment compliance critical.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Copper chelators (D-penicillamine, trientine) and zinc salts (block copper absorption) effective. Tetrathiomolybdate for neurologic presentation. Liver transplant for fulminant liver failure. Lifelong treatment required.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanIndiaPakistanBrazilMexicoChinaSouth Korea

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.