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Related Experiment Videos

[Late-onset Wilsońs disease].

J Campos Franco1, M J Domínguez Santalla, S Tomé Martínez de Rituerto

  • 1Servicio de Medicina Interna. Hospital Clínico. Complejo Universitario Santiago de Compostela. A Coruña, Spain. xkampos@hotmail.com

Anales De Medicina Interna (Madrid, Spain : 1984)
|October 1, 2003
PubMed
Summary

Late-onset Wilson’s disease, a rare condition, was diagnosed in a 58-year-old male presenting with elevated liver enzymes. Treatment with D-penicillamine normalized transaminases, highlighting the disease’s varied presentation.

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Area of Science:

  • Hepatology
  • Metabolic Disorders
  • Neurology

Background:

  • Wilson’s disease is a rare autosomal recessive disorder of copper metabolism.
  • It typically presents in younger individuals with neurological or hepatic symptoms.
  • Late-onset Wilson’s disease is uncommon and presents diagnostic challenges.

Observation:

  • A 58-year-old male with a history of psychiatric disorders exhibited persistent elevations in serum transaminases.
  • Diagnostic workup revealed low serum ceruloplasmin, increased urinary copper excretion, and elevated liver copper concentration.
  • Kayser-Fleischer rings were notably absent on slit lamp examination.

Findings:

  • The diagnostic criteria for Wilson’s disease were met despite the patient's age and lack of characteristic eye findings.

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  • D-penicillamine therapy led to the normalization of serum transaminases.
  • This case underscores the clinical heterogeneity of Wilson’s disease.

    • Implications:

    • Late-onset Wilson’s disease can occur and may present atypically, without Kayser-Fleischer rings.
    • Early diagnosis and treatment are crucial for managing Wilson’s disease, regardless of age of onset.
    • Recognizing Wilson’s disease in older adults is important for preventing irreversible liver damage and neurological complications.