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[Wilson disease: liver form].

Luis Guerra Montero1, Félix Ortega Álvarez1, Julia Sumire Umeres2

  • 1Unidad de Trasplante de órganos y Tejidos, Hospital Nacional Ramiro Priale Priale. Huancayo, Perú.

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Wilson disease (WD) is a rare genetic disorder causing toxic copper buildup. Early diagnosis and copper chelation therapy significantly improve patient prognosis, even with atypical liver presentation.

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Hepatology

Background:

  • Wilson disease (WD) is an autosomal recessive genetic disorder characterized by excessive copper accumulation in organs like the liver and brain.
  • WD typically presents with liver issues in younger individuals and neurological symptoms in later stages.
  • Understanding WD's varied presentation is crucial for timely diagnosis and management.

Observation:

  • A 21-year-old female presented with edematous ascites and liver cirrhosis, a less common initial presentation for WD.
  • Despite the advanced liver disease, the patient exhibited no initial neurological symptoms.
  • Diagnostic indicators included decreased serum ceruloplasmin and elevated 24-hour urinary copper excretion (cupruria).

Findings:

  • The patient's presentation highlights that WD can manifest primarily with severe liver disease, such as cirrhosis with ascites, even in young adults.
  • Laboratory findings of low serum ceruloplasmin and high cupruria are key diagnostic markers for WD.
  • These findings underscore the importance of considering WD in undiagnosed chronic liver disease.

Implications:

  • WD should be suspected in cases of chronic liver disease of unknown origin, especially when viral and autoimmune markers are negative.
  • Prompt diagnosis and initiation of copper-chelating agents can lead to substantial clinical improvement.
  • Early intervention in WD is critical for altering the disease course and improving long-term patient outcomes.