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Wilson Disease: Uncommon but Not to Be Forgotten

Wilson disease (WD) is an autosomal recessive genetic disorder caused by mutations of ATP7B, a copper transporter, which results in impaired copper clearance. Its clinical manifestations are varied and can result in a mix of hepatic and neuropsychiatric symptoms. We present the case of a 26-year-old...

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Autores principales: Manivannan, Ahila, Husain, Sanam, Shukr, Batool
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10277656/
https://www.ncbi.nlm.nih.gov/pubmed/37342740
http://dx.doi.org/10.7759/cureus.39247
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author Manivannan, Ahila
Husain, Sanam
Shukr, Batool
author_facet Manivannan, Ahila
Husain, Sanam
Shukr, Batool
author_sort Manivannan, Ahila
collection PubMed
description Wilson disease (WD) is an autosomal recessive genetic disorder caused by mutations of ATP7B, a copper transporter, which results in impaired copper clearance. Its clinical manifestations are varied and can result in a mix of hepatic and neuropsychiatric symptoms. We present the case of a 26-year-old female with a past medical history of alcohol use who presented with right upper quadrant abdominal pain with associated vomiting, jaundice, and fatigue. She was found to have signs and symptoms of decompensated cirrhosis and was initially concerned about superimposed alcoholic hepatitis. With low ceruloplasmin and alkaline phosphatase, the suspicion for WD remained, and the patient underwent liver transplantation due to her worsening clinical status. The quantitative hepatic copper content of the explanted liver was elevated, and genetic testing confirmed the diagnosis of WD. Our case highlights the importance of including WD in the differential of a young patient with severe liver disease, and it highlights the utility of the phosphatidyl ethanol (PEth) test as a marker for chronic severe alcohol use. In patients with a significant alcohol use history, the diagnosis of WD should still be considered for those with reasonable clinical suspicion.
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spelling pubmed-102776562023-06-20 Wilson Disease: Uncommon but Not to Be Forgotten Manivannan, Ahila Husain, Sanam Shukr, Batool Cureus Internal Medicine Wilson disease (WD) is an autosomal recessive genetic disorder caused by mutations of ATP7B, a copper transporter, which results in impaired copper clearance. Its clinical manifestations are varied and can result in a mix of hepatic and neuropsychiatric symptoms. We present the case of a 26-year-old female with a past medical history of alcohol use who presented with right upper quadrant abdominal pain with associated vomiting, jaundice, and fatigue. She was found to have signs and symptoms of decompensated cirrhosis and was initially concerned about superimposed alcoholic hepatitis. With low ceruloplasmin and alkaline phosphatase, the suspicion for WD remained, and the patient underwent liver transplantation due to her worsening clinical status. The quantitative hepatic copper content of the explanted liver was elevated, and genetic testing confirmed the diagnosis of WD. Our case highlights the importance of including WD in the differential of a young patient with severe liver disease, and it highlights the utility of the phosphatidyl ethanol (PEth) test as a marker for chronic severe alcohol use. In patients with a significant alcohol use history, the diagnosis of WD should still be considered for those with reasonable clinical suspicion. Cureus 2023-05-19 /pmc/articles/PMC10277656/ /pubmed/37342740 http://dx.doi.org/10.7759/cureus.39247 Text en Copyright © 2023, Manivannan et al. https://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
Manivannan, Ahila
Husain, Sanam
Shukr, Batool
Wilson Disease: Uncommon but Not to Be Forgotten
title Wilson Disease: Uncommon but Not to Be Forgotten
title_full Wilson Disease: Uncommon but Not to Be Forgotten
title_fullStr Wilson Disease: Uncommon but Not to Be Forgotten
title_full_unstemmed Wilson Disease: Uncommon but Not to Be Forgotten
title_short Wilson Disease: Uncommon but Not to Be Forgotten
title_sort wilson disease: uncommon but not to be forgotten
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10277656/
https://www.ncbi.nlm.nih.gov/pubmed/37342740
http://dx.doi.org/10.7759/cureus.39247
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