Literature DB >> 33786213

Undiagnosed Wilson's Disease and Fibromyalgia Masking Bowel Perforation.

Tyler Culpepper1, Amar H Kelkar1.   

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.
Copyright © 2021, Culpepper et al.

Entities:  

Keywords:  bipolar disorder; cathartic abuse; ceruloplasmin; delayed diagnosis; elevated transaminases; high-value care; laxative abuse; leipzig score; psychiatric disease; wilson’s disease

Year:  2021        PMID: 33786213      PMCID: PMC7992909          DOI: 10.7759/cureus.13504

Source DB:  PubMed          Journal:  Cureus        ISSN: 2168-8184


  9 in total

1.  Diagnosis and treatment of Wilson disease: an update.

Authors:  Eve A Roberts; Michael L Schilsky
Journal:  Hepatology       Date:  2008-06       Impact factor: 17.425

Review 2.  Systematic review: acute liver failure - one disease, more than 40 definitions.

Authors:  K A Wlodzimirow; S Eslami; A Abu-Hanna; M Nieuwoudt; R A F M Chamuleau
Journal:  Aliment Pharmacol Ther       Date:  2012-04-16       Impact factor: 8.171

3.  Noncirrhotic hyperammonemia causing relapsing altered mental status.

Authors:  Chibuzo Clement Odigwe; Binod Khatiwada; Christopher Holbrook; Ifeoma Sylvia Ekeh; Chukwuemeka Uzoka; Isaac Ikwu; Bishwas Upadhyay
Journal:  Proc (Bayl Univ Med Cent)       Date:  2015-10

4.  Surviving Sepsis Campaign: International Guidelines for Management of Sepsis and Septic Shock: 2016.

Authors:  Andrew Rhodes; Laura E Evans; Waleed Alhazzani; Mitchell M Levy; Massimo Antonelli; Ricard Ferrer; Anand Kumar; Jonathan E Sevransky; Charles L Sprung; Mark E Nunnally; Bram Rochwerg; Gordon D Rubenfeld; Derek C Angus; Djillali Annane; Richard J Beale; Geoffrey J Bellinghan; Gordon R Bernard; Jean-Daniel Chiche; Craig Coopersmith; Daniel P De Backer; Craig J French; Seitaro Fujishima; Herwig Gerlach; Jorge Luis Hidalgo; Steven M Hollenberg; Alan E Jones; Dilip R Karnad; Ruth M Kleinpell; Younsuk Koh; Thiago Costa Lisboa; Flavia R Machado; John J Marini; John C Marshall; John E Mazuski; Lauralyn A McIntyre; Anthony S McLean; Sangeeta Mehta; Rui P Moreno; John Myburgh; Paolo Navalesi; Osamu Nishida; Tiffany M Osborn; Anders Perner; Colleen M Plunkett; Marco Ranieri; Christa A Schorr; Maureen A Seckel; Christopher W Seymour; Lisa Shieh; Khalid A Shukri; Steven Q Simpson; Mervyn Singer; B Taylor Thompson; Sean R Townsend; Thomas Van der Poll; Jean-Louis Vincent; W Joost Wiersinga; Janice L Zimmerman; R Phillip Dellinger
Journal:  Intensive Care Med       Date:  2017-01-18       Impact factor: 17.440

5.  Diagnostic criteria for acute liver failure due to Wilson disease.

Authors:  Christoph Eisenbach; Olivia Sieg; Wolfgang Stremmel; Jens Encke; Uta Merle
Journal:  World J Gastroenterol       Date:  2007-03-21       Impact factor: 5.742

6.  Three atypical cases of Wilson disease: assessment of the Leipzig scoring system in making a diagnosis.

Authors:  Andy Xuan; Ian Bookman; Diane W Cox; Jenny Heathcote
Journal:  J Hepatol       Date:  2007-06-25       Impact factor: 25.083

7.  Wilson's disease - A rare cause of renal tubular acidosis with metabolic bone disease.

Authors:  D K S Subrahmanyam; M Vadivelan; S Giridharan; N Balamurugan
Journal:  Indian J Nephrol       Date:  2014-05

Review 8.  Organ dysfunction as a new standard for defining sepsis.

Authors:  Seitaro Fujishima
Journal:  Inflamm Regen       Date:  2016-11-15

9.  Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary study.

Authors:  Caroline Demily; François Parant; David Cheillan; Emmanuel Broussolle; Alice Pavec; Olivier Guillaud; Lioara Restier; Alain Lachaux; Muriel Bost
Journal:  Ann Gen Psychiatry       Date:  2017-04-04       Impact factor: 3.455

  9 in total

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