Wilson’s Disease: An Update on the Diagnostic Workup and Management

Wilson’s disease (WD) is a rare autosomal recessive disorder of hepatocellular copper deposition. The diagnostic approach to patients with WD may be challenging and is based on a complex set of clinical findings that derive from patient history, physical examination, as well as laboratory and imagin...

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Autores principales:	Beata Kasztelan-Szczerbinska, Halina Cichoz-Lach
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	anti-copper therapy ATP7B copper chelators liver disease Wilson’s disease zinc salts Medicine R
Acceso en línea:	https://doaj.org/article/4dc620ef11454037965a36cf4267bc05
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spelling	oai:doaj.org-article:4dc620ef11454037965a36cf4267bc052021-11-11T17:43:08ZWilson’s Disease: An Update on the Diagnostic Workup and Management10.3390/jcm102150972077-0383https://doaj.org/article/4dc620ef11454037965a36cf4267bc052021-10-01T00:00:00Zhttps://www.mdpi.com/2077-0383/10/21/5097https://doaj.org/toc/2077-0383Wilson’s disease (WD) is a rare autosomal recessive disorder of hepatocellular copper deposition. The diagnostic approach to patients with WD may be challenging and is based on a complex set of clinical findings that derive from patient history, physical examination, as well as laboratory and imaging testing. No single examination can unequivocally confirm or exclude the disease. Timely identification of signs and symptoms using novel biomarkers and modern diagnostic tools may help to reduce treatment delays and improve patient prognosis. The proper way of approaching WD management includes, firstly, early diagnosis and prompt treatment introduction; secondly, careful and lifelong monitoring of patient compliance and strict adherence to the treatment; and, last but not least, screening for adverse effects and evaluation of treatment efficacy. Liver transplantation is performed in about 5% of WD patients who present with acute liver failure at first disease presentation or with signs of decompensation in the course of liver cirrhosis. Increasing awareness of this rare inherited disease among health professionals, emphasizing their training to consider early signs and symptoms of the illness, and strict monitoring are vital strategies for the patient safety and efficacy of WD therapy.Beata Kasztelan-SzczerbinskaHalina Cichoz-LachMDPI AGarticleanti-copper therapyATP7Bcopper chelatorsliver diseaseWilson’s diseasezinc saltsMedicineRENJournal of Clinical Medicine, Vol 10, Iss 5097, p 5097 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	anti-copper therapy ATP7B copper chelators liver disease Wilson’s disease zinc salts Medicine R
spellingShingle	anti-copper therapy ATP7B copper chelators liver disease Wilson’s disease zinc salts Medicine R Beata Kasztelan-Szczerbinska Halina Cichoz-Lach Wilson’s Disease: An Update on the Diagnostic Workup and Management
description	Wilson’s disease (WD) is a rare autosomal recessive disorder of hepatocellular copper deposition. The diagnostic approach to patients with WD may be challenging and is based on a complex set of clinical findings that derive from patient history, physical examination, as well as laboratory and imaging testing. No single examination can unequivocally confirm or exclude the disease. Timely identification of signs and symptoms using novel biomarkers and modern diagnostic tools may help to reduce treatment delays and improve patient prognosis. The proper way of approaching WD management includes, firstly, early diagnosis and prompt treatment introduction; secondly, careful and lifelong monitoring of patient compliance and strict adherence to the treatment; and, last but not least, screening for adverse effects and evaluation of treatment efficacy. Liver transplantation is performed in about 5% of WD patients who present with acute liver failure at first disease presentation or with signs of decompensation in the course of liver cirrhosis. Increasing awareness of this rare inherited disease among health professionals, emphasizing their training to consider early signs and symptoms of the illness, and strict monitoring are vital strategies for the patient safety and efficacy of WD therapy.
format	article
author	Beata Kasztelan-Szczerbinska Halina Cichoz-Lach
author_facet	Beata Kasztelan-Szczerbinska Halina Cichoz-Lach
author_sort	Beata Kasztelan-Szczerbinska
title	Wilson’s Disease: An Update on the Diagnostic Workup and Management
title_short	Wilson’s Disease: An Update on the Diagnostic Workup and Management
title_full	Wilson’s Disease: An Update on the Diagnostic Workup and Management
title_fullStr	Wilson’s Disease: An Update on the Diagnostic Workup and Management
title_full_unstemmed	Wilson’s Disease: An Update on the Diagnostic Workup and Management
title_sort	wilson’s disease: an update on the diagnostic workup and management
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/4dc620ef11454037965a36cf4267bc05
work_keys_str_mv	AT beatakasztelanszczerbinska wilsonsdiseaseanupdateonthediagnosticworkupandmanagement AT halinacichozlach wilsonsdiseaseanupdateonthediagnosticworkupandmanagement
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Wilson’s Disease: An Update on the Diagnostic Workup and Management

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