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Diagnostic Pitfalls in Wilson Disease with Autoimmune Features: A Case Report
Sara Ramos Lopes1, Madalena Teixeira1, Cristiana Sequeira1
1Gastrenterology Department, Unidade Local de Saúde da Arrábida, Setúbal, Portugal.
Introduction:
Wilson's disease is a rare inherited disorder caused by mutations in the copper transporter ATP7B.
Case Presentation:
We present the case of a 33-year-old woman who was admitted with decompensated liver cirrhosis, initially suspected to have autoimmune hepatitis and treated with corticosteroids without improvement. Further investigation confirmed the diagnosis of Wilson disease. Despite initiating penicillamine therapy, the patient's condition worsened, requiring urgent liver transplantation.
Conclusion:
This case highlights the diagnostic challenges of Wilson's disease, given its rarity and mimicry of other conditions, particularly when accompanied by autoimmune features, underscoring the importance of early referral for transplantation.
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