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Wilson's disease: varied hepatic presentations

H H Gill1, K Shankaran, H G Desai

  • 1Department of Gastroenterology, Jaslok Hospital and Research Center, Bombay.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology
|July 1, 1994
PubMed
Summary

Wilson's disease, an inherited copper metabolism disorder, presents with diverse liver issues. Early detection and treatment with penicillamine/trientene and zinc sulfate improve outcomes in most patients.

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Area of Science:

  • Hepatology
  • Genetics
  • Metabolic Disorders

Background:

  • Wilson's disease is an inherited disorder affecting copper metabolism.
  • Neurological symptoms are common, but hepatic manifestations are also significant.
  • This study focuses on Indian patients with varied liver presentations of Wilson's disease.

Observation:

  • Eleven patients with Wilson's disease and hepatic manifestations were analyzed.
  • Diagnostic methods included slit-lamp examination, serum ceruloplasmin, and urinary copper levels.
  • Liver biopsy was performed when feasible.

Findings:

  • Patients presented with acute viral hepatitis, fulminant hepatic failure, subacute hepatic failure, and cryptogenic cirrhosis.
  • Treatment with penicillamine/trientene and zinc sulfate showed positive responses in 5 out of 9 patients.

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  • Adverse effects or loss to follow-up occurred in some cases.

    • Implications:

    • Wilson's disease should be suspected in patients with unexplained liver disease, especially young adults with acute hepatitis or hepatic failure.
    • Investigating Wilson's disease is crucial for patients with underlying chronic liver disease or hemolytic anemia.
    • Combined therapy with penicillamine/trientene and zinc sulfate is effective for a majority of patients.