Hepatic manifestations of Wilson's disease: 12-year experience in a Swiss tertiary referral centre.

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Version: Final published version
Serval ID
serval:BIB_CDB29876DD5D
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Hepatic manifestations of Wilson's disease: 12-year experience in a Swiss tertiary referral centre.
Journal
Swiss medical weekly
Author(s)
Vieira Barbosa J., Fraga M., Saldarriaga J., Hiroz P., Giostra E., Sempoux C., Ferenci P., Moradpour D.
ISSN
1424-3997 (Electronic)
ISSN-L
0036-7672
Publication state
Published
Issued date
17/12/2018
Peer-reviewed
Oui
Volume
148
Pages
w14699
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
Wilson’s disease is an inherited disorder of hepatic copper metabolism, leading to the accumulation of copper in the liver as well as the brain, cornea and other organs. Here, we describe the adult cases of hepatic Wilson’s disease diagnosed at the Division of Gastroenterology and Hepatology of the University Hospital Lausanne, Switzerland between September 2004 and August 2016.
Clinical manifestations, results of diagnostic tests, management and outcomes of adult patients with hepatic Wilson’s disease were assessed based on standardised medical records. In addition, liver histology was reviewed and the lesional patterns were recorded.
Ten new adult cases of hepatic Wilson’s disease were diagnosed in our centre between September 2004 and August 2016. Male to female ratio was 1:1 and median age at diagnosis was 26 (range 18–56) years. Four patients presented with acute liver failure, four with persistently elevated liver function tests, and two with decompensated cirrhosis; none had neurological manifestations. Only one patient had a Kayser-Fleischer corneal ring. Median ceruloplasmin level at diagnosis was 0.13 (range <0.03–0.30) g/l, median 24-hour urinary copper excretion was 2.8 (range 0.3–77.3) μmol, and median hepatic copper concentration was 789 (range 284–1677) μg/g. At least one mutation in the ATP7B gene was identified in eight patients. Allelic frequency of the common H1069Q mutation was 19%. Leipzig score was ≥5 in all patients. Three patients presenting with acute liver failure and the two with decompensated cirrhosis underwent successful liver transplantation. One patient with acute liver failure recovered under chelation therapy, as predicted by a Dhawan score <11. D-penicillamine was used as first-line chelator treatment, with a subsequent switch to trientine due to adverse effects in three out of six patients.
The clinical presentation of hepatic Wilson’s disease is highly variable. Three out of 10 patients were diagnosed at an age >35 years. A high index of suspicion in clinically compatible situations is key.
Keywords
Adult, Chelating Agents/administration & dosage, Copper/blood, Copper-transporting ATPases/genetics, Female, Hepatolenticular Degeneration/diagnosis, Hepatolenticular Degeneration/genetics, Humans, Liver/metabolism, Liver Cirrhosis/etiology, Liver Failure, Acute/etiology, Male, Mutation/genetics, Penicillamine/administration & dosage, Switzerland, Tertiary Care Centers
Pubmed
Web of science
Open Access
Yes
Create date
11/01/2019 9:29
Last modification date
20/08/2019 16:48
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