Diagnostic Pitfalls in Wilson Disease with Autoimmune Features: A Case Report

Area of Science:

• Hepatology
• Genetics
• Internal Medicine

Background:

• Wilson disease is a rare inherited disorder stemming from ATP7B gene mutations, impacting copper metabolism.
• It often mimics other liver conditions, complicating diagnosis and management.
• Copper accumulation can lead to severe liver damage and failure.

Purpose of the Study:

• To illustrate the diagnostic complexities of Wilson disease.
• To emphasize the importance of considering Wilson disease in patients with unexplained liver cirrhosis and autoimmune features.
• To highlight the critical role of timely liver transplantation in advanced cases.

Main Methods:

• Case report of a 33-year-old woman with decompensated liver cirrhosis.
• Initial misdiagnosis as autoimmune hepatitis and corticosteroid treatment.
• Diagnostic workup confirming Wilson disease.
• Treatment with penicillamine and subsequent need for liver transplantation.

Main Results:

• The patient's condition did not improve with initial autoimmune hepatitis treatment.
• Wilson disease was confirmed through further investigations.
• Despite penicillamine therapy, the patient's liver function deteriorated, necessitating a liver transplant.

Conclusions:

• Wilson disease can present insidiously, mimicking autoimmune hepatitis.
• Diagnostic delays can lead to advanced liver disease.
• Early identification and consideration for liver transplantation are vital for improving outcomes in Wilson disease.