Wilson's disease presentation resembling autoimmune hepatitis.

Area of Science:

• Hepatology
• Autoimmune Diseases
• Rare Metabolic Disorders

Background:

• Autoimmune hepatitis (AIH) is an immune-mediated liver disease characterized by autoantibodies and elevated gamma globulins.
• Chronic hepatopathy can present with overlapping clinical and laboratory features, making differential diagnosis challenging.
• Early diagnosis and appropriate treatment are crucial for managing liver diseases and preventing complications.

Observation:

• A 25-year-old female presented with chronic hepatopathy, elevated autoantibodies, and gamma globulins, initially mimicking AIH.
• Standard immunosuppressive treatment for 8 weeks yielded no improvement.
• Further investigations revealed laboratory and histological findings indicative of Wilson's disease.

Findings:

• Wilson's disease, a genetic disorder of copper metabolism, was confirmed as the underlying cause.
• Treatment with D-penicillamine, a chelating agent, led to a positive clinical outcome.
• The initial misdiagnosis underscores the complexity of differentiating AIH from Wilson's disease based solely on initial presentation.

Implications:

• This case emphasizes the need for a broad differential diagnosis in chronic liver diseases, even when autoimmune markers are present.
• It highlights the importance of considering Wilson's disease in young adults with unexplained chronic hepatopathy.
• Timely and accurate diagnosis, followed by specific treatment, can significantly alter the prognosis of Wilson's disease, preventing irreversible liver damage.