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Case Report: Using basic liver function tests as a guide to suspected Wilson's disease.

Sudeep Adhikari1, Prashant Kumar Shah2, Yuba Raj Sharma2

  • 1Department of Internal Medicine, Pyuthan Hospital, Pyuthan, 22300, Nepal.

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|April 28, 2022
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Summary
This summary is machine-generated.

Basic liver function tests (LFTs) can guide suspicion for Wilson disease, a rare genetic disorder. This case highlights LFT patterns useful for diagnosing Wilson disease in patients with liver issues, even in resource-limited settings.

Keywords:
NepalWilson's diseasebasic liver function testsliver disease

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Area of Science:

  • Hepatology
  • Rare Diseases
  • Medical Diagnostics

Background:

  • Wilson disease is a rare genetic disorder causing copper accumulation, primarily affecting the liver and brain.
  • Subacute liver disease presentation can obscure diagnosis, especially with co-existing conditions like alcohol abuse.
  • Basic liver function tests (LFTs) provide initial clues to liver pathology.

Observation:

  • A 36-year-old female with a history of alcohol abuse presented with subacute liver disease.
  • Initial LFTs revealed an aspartate transaminase/alanine transaminase ratio > 2.2 and alkaline phosphatase/total bilirubin ratio < 4.
  • This LFT pattern, typically seen in acute liver failure, prompted suspicion for Wilson disease.

Findings:

  • Further investigations, including slit lamp eye examination for Kayser-Fleischer rings, serum ceruloplasmin, and 24-hour urinary copper levels, confirmed the diagnosis of Wilson disease.
  • The patient showed clinical and biochemical improvement after treatment with zinc acetate.
  • The diagnostic utility of basic LFTs in suspecting Wilson disease was demonstrated.

Implications:

  • Basic LFTs can serve as a cost-effective screening tool for Wilson disease in diverse clinical settings.
  • Early suspicion and targeted investigations are crucial for timely diagnosis and management of Wilson disease.
  • This case underscores the importance of considering rare diseases even with common presentations, particularly in resource-limited areas.