[Wilson disease: liver form]

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.