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Hepatic manifestations of Wilson's disease: 12-year experience in a Swiss tertiary referral centre.
Swiss Med Wkly 2018; 148:w14699SM

Authors+Show Affiliations

Division of Gastroenterology and Hepatology, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Switzerland.Division of Gastroenterology and Hepatology, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Switzerland.Institute of Pathology, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Switzerland.Division of Gastroenterology and Hepatology, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Switzerland.Division of Gastroenterology and Hepatology, Geneva University Hospitals, Switzerland.Institute of Pathology, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Switzerland.Division of Gastroenterology and Hepatology, Department of Internal Medicine III, Medical University of Vienna, Austria.Division of Gastroenterology and Hepatology, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Switzerland.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

30576569

Citation

Vieira Barbosa, Joana, et al. "Hepatic Manifestations of Wilson's Disease: 12-year Experience in a Swiss Tertiary Referral Centre." Swiss Medical Weekly, vol. 148, 2018, pp. w14699.
Vieira Barbosa J, Fraga M, Saldarriaga J, et al. Hepatic manifestations of Wilson's disease: 12-year experience in a Swiss tertiary referral centre. Swiss Med Wkly. 2018;148:w14699.
Vieira Barbosa, J., Fraga, M., Saldarriaga, J., Hiroz, P., Giostra, E., Sempoux, C., ... Moradpour, D. (2018). Hepatic manifestations of Wilson's disease: 12-year experience in a Swiss tertiary referral centre. Swiss Medical Weekly, 148, pp. w14699. doi:10.4414/smw.2018.14699.
Vieira Barbosa J, et al. Hepatic Manifestations of Wilson's Disease: 12-year Experience in a Swiss Tertiary Referral Centre. Swiss Med Wkly. 2018 12 17;148:w14699. PubMed PMID: 30576569.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hepatic manifestations of Wilson's disease: 12-year experience in a Swiss tertiary referral centre. AU - Vieira Barbosa,Joana, AU - Fraga,Montserrat, AU - Saldarriaga,Joan, AU - Hiroz,Philippe, AU - Giostra,Emiliano, AU - Sempoux,Christine, AU - Ferenci,Peter, AU - Moradpour,Darius, Y1 - 2018/12/21/ PY - 2018/12/22/entrez PY - 2018/12/24/pubmed PY - 2019/2/27/medline SP - w14699 EP - w14699 JF - Swiss medical weekly JO - Swiss Med Wkly VL - 148 N2 - 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&ndash;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&ndash;0.30) g/l, median 24-hour urinary copper excretion was 2.8 (range 0.3&ndash;77.3) &mu;mol, and median hepatic copper concentration was 789 (range 284&ndash;1677) &mu;g/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. SN - 1424-3997 UR - https://www.unboundmedicine.com/medline/citation/30576569/Hepatic_manifestations_of_Wilson's_disease:_12-year_experience_in_a_Swiss_tertiary_referral_centre L2 - http://doi.emh.ch/10.4414/smw.2018.14699 DB - PRIME DP - Unbound Medicine ER -