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Wilson's disease: diagnostic errors and clinical implications.

L K Prashanth1, A B Taly, S Sinha

  • 1Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.

Journal of Neurology, Neurosurgery, and Psychiatry
|May 18, 2004
PubMed
Summary
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Early recognition of Wilson's disease (WD) is crucial for treatment. Diagnostic errors by healthcare professionals often delay WD diagnosis and treatment, impacting patient outcomes.

Area of Science:

  • Neurology
  • Genetics
  • Hepatology

Background:

  • Wilson's disease (WD) is a rare genetic disorder characterized by copper accumulation.
  • Early diagnosis and treatment are vital for favorable therapeutic outcomes in WD.
  • Protean manifestations and rarity contribute to diagnostic delays.

Observation:

  • A 30-year retrospective analysis of 307 WD patients was conducted.
  • Medical records were reviewed for presenting symptoms, diagnostic errors, and treatment delays.
  • Diagnostic errors were identified in 192 patients by referring physicians across various specialties.

Findings:

  • Common misdiagnoses included schizophrenia, juvenile polyarthritis, and nephrotic syndrome.
  • The average delay from symptom onset to diagnosis was two years, with a range of 0.08 to 30 years.

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  • Inappropriate treatments administered before correct diagnosis included electroconvulsive therapy and antipsychotics.

    • Implications:

    • Increased awareness of WD's diverse clinical presentations among healthcare professionals is essential.
    • A high index of suspicion for WD is critical for timely diagnosis and improved patient prognosis.
    • Addressing diagnostic omissions can significantly reduce treatment delays and improve therapeutic outcomes.