Undiagnosed Wilson’s Disease and Fibromyalgia Masking Bowel Perforation Original paper

What was studied?

This case study examines the challenges in diagnosing Wilson’s disease (WD) in a 37-year-old woman who presented with confusion, chronic diarrhea, and hepatic enzyme elevation. The research investigates how the patient’s psychiatric history, including fibromyalgia and bipolar disorder, complicated the diagnosis. The patient’s symptoms were initially attributed to psychiatric issues, delaying the identification of Wilson’s disease. The study also delves into how chronic laxative abuse and gastrointestinal complications, including a bowel perforation, masked the underlying liver disease.

Who was studied?

The study focused on a 37-year-old woman with a complex medical and psychiatric history. She had been previously diagnosed with fibromyalgia, bipolar disorder, and microscopic colitis, leading to significant confusion regarding the underlying cause of her symptoms. The patient had been managed for multiple psychiatric conditions, and her gastrointestinal symptoms had been treated symptomatically. The study follows her case from the initial misdiagnosis to the eventual identification of Wilson’s disease.

Most important findings

The study revealed that the patient’s signs of acute liver failure, including altered mental status and elevated ammonia levels, were initially overlooked due to the psychiatric symptoms. It was later found that low ceruloplasmin and elevated urine copper levels, diagnostic markers of Wilson’s disease, were present. However, a liver biopsy could not be performed due to the complications from a bowel perforation. The patient’s psychiatric symptoms, including depression and personality changes, were eventually attributed to Wilson’s disease, illustrating its neurological manifestations. This case underscores the diagnostic challenge of Wilson’s disease when psychiatric and gastrointestinal issues dominate the clinical presentation.

Key implications

This case underscores the importance of considering Wilson’s disease in patients with neuropsychiatric symptoms, even when liver involvement is not immediately apparent. The overlap between psychiatric disorders and Wilson’s disease symptoms can delay diagnosis, especially when chronic medical conditions, such as fibromyalgia, complicate the clinical picture. Early recognition and treatment of Wilson’s disease could prevent the progression to severe complications such as liver failure and bowel perforation. This case also highlights the need for comprehensive testing in patients with psychiatric and gastrointestinal symptoms, especially when there are subtle laboratory signs indicative of liver dysfunction. Additionally, it calls for improved awareness among healthcare providers of the diverse clinical presentations of Wilson’s disease.