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Undiagnosed Wilson’s Disease and Fibromyalgia Masking Bowel Perforation

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...

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Autores principales: Culpepper, Tyler, Kelkar, Amar H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7992909/
https://www.ncbi.nlm.nih.gov/pubmed/33786213
http://dx.doi.org/10.7759/cureus.13504
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author Culpepper, Tyler
Kelkar, Amar H
author_facet Culpepper, Tyler
Kelkar, Amar H
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collection PubMed
description 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.
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spelling pubmed-79929092021-03-29 Undiagnosed Wilson’s Disease and Fibromyalgia Masking Bowel Perforation Culpepper, Tyler Kelkar, Amar H Cureus Internal Medicine 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. Cureus 2021-02-23 /pmc/articles/PMC7992909/ /pubmed/33786213 http://dx.doi.org/10.7759/cureus.13504 Text en Copyright © 2021, Culpepper et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Culpepper, Tyler
Kelkar, Amar H
Undiagnosed Wilson’s Disease and Fibromyalgia Masking Bowel Perforation
title Undiagnosed Wilson’s Disease and Fibromyalgia Masking Bowel Perforation
title_full Undiagnosed Wilson’s Disease and Fibromyalgia Masking Bowel Perforation
title_fullStr Undiagnosed Wilson’s Disease and Fibromyalgia Masking Bowel Perforation
title_full_unstemmed Undiagnosed Wilson’s Disease and Fibromyalgia Masking Bowel Perforation
title_short Undiagnosed Wilson’s Disease and Fibromyalgia Masking Bowel Perforation
title_sort undiagnosed wilson’s disease and fibromyalgia masking bowel perforation
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7992909/
https://www.ncbi.nlm.nih.gov/pubmed/33786213
http://dx.doi.org/10.7759/cureus.13504
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