Presentation, diagnosis and outcome of predominantly hepatic Wilson′s disease in adult Saudi patients: A single centre experience

The Saudi Journal of Gastroenterology. 2012;18(5):334-338 DOI 10.4103/1319-3767.101135

 

Journal Homepage

Journal Title: The Saudi Journal of Gastroenterology

ISSN: 1319-3767 (Print); 1998-4049 (Online)

Publisher: Wolters Kluwer Medknow Publications

Society/Institution: Saudi Gastroenterology Association

LCC Subject Category: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the digestive system. Gastroenterology

Country of publisher: India

Language of fulltext: English

Full-text formats available: PDF, HTML, ePUB

 

AUTHORS

Ibrahim Altraif
Fayaz A Handoo
Hamdan Al Ghamdi
Abdulrahman Aljumah
Mohammed Al Jumah
Mohammed Afzal

EDITORIAL INFORMATION

Double blind peer review

Editorial Board

Instructions for authors

Time From Submission to Publication: 28 weeks

 

Abstract | Full Text

Background/Aim: To evaluate the clinical manifestations, diagnostic features, disease course and response to treatment among Saudi adults with predominantly hepatic Wilson′s disease. A retrospective cohort study of 40 adult patients diagnosed with predominantly hepatic Wilson′s disease between 1994 and 2008 at King Abdulaziz Medical City, Riyadh was carried out. Patients and Methods: The diagnosis was based on varying combinations of clinical and laboratory evidence of liver disease, presence of Kayser Fleisher rings, low serum ceruloplasmin levels, elevated 24 hour urinary copper excretion and histopathological findings on liver biopsy. Results: The most frequent clinical presentation was decompensated chronic liver disease in 19 (47.5%), followed by chronic hepatitis in 15 (37.5%) and fulminant hepatic failure (FHF) in 5 (12.5%) patients. Eight (20%) patients with end-stage liver disease had liver transplantation, while 24 (60%) patients followed up on medical treatment for a variable period of 1-12 years showed clinical and laboratory improvement. One patient was lost early in follow up. Eight (20%) patients died during the study period, 5 with FHF, and 2 with advanced hepatic and neurological disease and one seven years after liver transplantation. Mortality rate was 100% in FHF without liver transplantation. Conclusion: A predominantly hepatic Wilson′s disease has varied clinical presentations with decompensated chronic liver disease being the most common among adult patients. Majority of the patients show stabilization of the disease on medical treatment. FHF in Wilson′s disease has a grave prognosis without liver transplantation, the later remains a definitive treatment option for decompensated cirrhotics and patients with FHF.