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Wilson disease.

Maha Guindi1

  • 1Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles CA 90048, USA.

Seminars in Diagnostic Pathology
|August 19, 2019
PubMed
Summary

Wilson disease (WD) is an inherited copper metabolism disorder causing toxic copper buildup in the liver and brain. Diagnosis involves clinical signs, biochemical tests, and genetic testing of the ATP7B gene.

Area of Science:

  • Genetics
  • Hepatology
  • Neurology

Background:

  • Wilson disease is an inherited disorder of copper metabolism.
  • Defective copper handling leads to toxic accumulation in hepatocytes, circulation, and the central nervous system.
  • Manifestations are diverse, including hepatic, neurological, ophthalmic, and psychiatric symptoms.

Purpose of the Study:

  • To summarize the key aspects of Wilson disease diagnosis and presentation.
  • To highlight the variability in clinical and histological findings.
  • To emphasize the role of biochemical and genetic testing.

Main Methods:

  • Review of clinical presentations, biochemical abnormalities (serum ceruloplasmin, urinary copper), and histological patterns.
  • Discussion of diagnostic aids including special stains and liver copper concentration.
Keywords:
Chronic liver diseaseCopper stainsFulminant hepatic failureLiver copperWilson disease

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  • Mention of genetic testing for the ATP7B gene.

    • Main Results:

    • Wilson disease presents variably, with approximately 50% of patients showing liver disease.
    • Liver manifestations range from abnormal liver tests to acute liver failure.
    • Histological findings are not specific but can be aided by special stains and copper concentration.
    • Biochemical markers are not always abnormal and can overlap with other conditions.

    Conclusions:

    • Wilson disease diagnosis requires a comprehensive approach integrating clinical, biochemical, histological, and genetic data.
    • The ATP7B gene discovery has enabled molecular diagnosis through genetic testing.
    • Diagnostic algorithms from hepatology organizations guide the workup.