Undiagnosed Wilson’s Disease and Fibromyalgia Masking Bowel Perforation

Abstract

Wilson's disease is a complex multi-organ disease characterized by impaired biliary excretion of copper and resulting deposition of excess copper in the liver and other organs. It has a wide range of clinical presentations, and diagnosis often requires a high degree of clinical suspicion, especially in patients with multiple other comorbidities. We present the case of a 37-year-old woman with a complex medical and psychiatric history who was admitted for chronic diarrhea, hepatic enzyme elevation, electrolyte abnormalities, hyperammonemia, and methicillin-sensitive Staphylococcus aureus bacteremia. She was eventually found to have low serum ceruloplasmin level and elevated urine copper levels. Though confirmatory liver biopsy was not performed due to bowel wall rupture and septic shock, most of her symptoms and lab abnormalities could be explained by an underlying diagnosis of Wilson's disease. We present this case primarily as a cautionary tale. This patient was not lacking in medical attention prior to this prolonged hospitalization; however, her psychiatric issues and fibromyalgia management were the predominant foci during her frequent primary care office visits and likely distracted from the patient's chronic laboratory abnormalities. More vigilant laboratory evaluation of underlying medical conditions in psychiatric patients may be warranted in order to prevent serious complications of such conditions.