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Wilson's Disease: Expect the Unexpected.

Talal El Imad1, Hassan Al Moussawi2, Fady G Haddad3

  • 1Department of Internal Medicine, Staten Island University Hospital, New York.

Cureus
|April 13, 2018
PubMed
Summary
This summary is machine-generated.

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This case study highlights a rare instance of late-onset Wilson's disease (WD) in a 64-year-old woman. Despite normal ceruloplasmin and urinary copper levels, liver biopsy confirmed WD with elevated liver copper.

Area of Science:

  • Hepatology
  • Rare Diseases
  • Medical Diagnostics

Background:

  • Wilson's disease (WD) is a rare genetic disorder of copper metabolism, typically presenting earlier in life.
  • Diagnosis usually involves assessing ceruloplasmin levels and 24-hour urinary copper excretion.
  • Late-onset WD is uncommon and can pose diagnostic challenges.

Observation:

  • A 64-year-old woman presented with abdominal distention, jaundice, and resting tremor.
  • Imaging revealed ascites and signs of liver cirrhosis.
  • Initial extensive liver disease workup was negative.

Findings:

  • Liver biopsy demonstrated cirrhosis with elevated liver copper, confirming Wilson's disease.
  • Notably, ceruloplasmin levels and 24-hour urinary copper excretion were within normal ranges.
Keywords:
ceruloplasmincopperliver

Related Experiment Videos

  • This presentation is atypical for Wilson's disease, particularly the normal biochemical markers.

    • Implications:

    • This case underscores the importance of considering Wilson's disease even with normal standard biochemical markers in late-onset presentations.
    • It highlights the diagnostic utility of liver biopsy in equivocal cases of liver disease.
    • Further research into atypical Wilson's disease presentations may improve diagnostic strategies for this rare condition.