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J Clin Exp Hepatol. 2019 Jan-Feb;9(1):74-98. doi: 10.1016/j.jceh.2018.08.009. Epub 2018 Sep 3.

Wilson's Disease: Clinical Practice Guidelines of the Indian National Association for Study of the Liver, the Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition, and the Movement Disorders Society of India.

Author information

1
Department of Gastroenterology, Jaslok Hospital and Research Centre, Mumbai, India.
2
Department of Gastroenterology, Apollo Hospitals, Navi Mumbai, India.
3
Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
4
Department of Paediatric Gastroenterology, Masonic Medical Centre for Children, Coimbatore, India.
5
Department of Neurology, Apollo Hospitals, Bangalore, India.
6
Department of Gastroenterology and Hepatology, St. John's Medical College Hospital, Bangalore, India.
7
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.
8
Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India.
9
Department of Pediatrics, KEM Hospital, Pune, India.
10
Department of Hepatology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
11
Department of Gastroenterology, Christian Medical College, Vellore, India.
12
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
13
Department of Pediatric Gastroenterology, Hepatology & Liver Transplantation, Medanta - The Medicity Hospital, Gurgaon, India.
14
Department of Neurology, Nizam's Institute of Medical Sciences, Hyderabad, India.
15
Department of Pediatric Gastroenterology, Kanchi Kamakoti Childs Trust Hospital Chennai, India.
16
Department of Pediatric Gastroenterology and Hepatology, Indraprastha Apollo Hospitals, New Delhi, India.
17
Department of Pediatric Gastroenterology, Apollo Children's Hospital, Chennai, India.
18
Department of Gastroenterology & Pediatric Gastroenterology, MM Medical Institute of Medical Sciences and Research, Mullana, Ambala, India.
19
Department of Neurology, Jaslok Hospital and Research Centre, Mumbai, India.
20
Department of Pediatrics and Pediatric Liver GI and Nutrition Center and Mowat Labs, King's College Hospital, London, UK.

Abstract

Clinical practice guidelines for Wilson's disease (WD) have been published by the American Association for the Study of Liver Diseases and European Association for the Study of the Liver in 2008 and 2012, respectively. Their focus was on the hepatic aspects of the disease. Recently, a position paper on pediatric WD was published by the European Society of Pediatric Gastroenterology Hepatology and Nutrition. A need was felt to harmonize guidelines for the hepatic, pediatric, and neurological aspects of the disease and contextualize them to the resource-constrained settings. Therefore, experts from national societies from India representing 3 disciplines, hepatology (Indian National Association for Study of the Liver), pediatric hepatology (Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition), and neurology (Movement Disorders Society of India) got together to evolve fresh guidelines. A literature search on retrospective and prospective studies of WD using MEDLINE (PubMed) was performed. Members voted on each recommendation, using the nominal voting technique. The Grades of Recommendation, Assessment, Development and Evaluation system was used to determine the quality of evidence. Questions related to diagnostic tests, scoring system, and its modification to a version suitable for resource-constrained settings were posed. While ceruloplasmin and 24-h urine copper continue to be important, there is little role of serum copper and penicillamine challenge test in the diagnostic algorithm. A new scoring system - Modified Leipzig score has been suggested with extra points being added for family history and serum ceruloplasmin lower than 5 mg/dl. Liver dry copper estimation and penicillamine challenge test have been removed from the scoring system. Differences in pharmacological approach to neurological and hepatic disease and global monitoring scales have been included. Rising bilirubin and worsening encephalopathy are suggested as indicators predicting need for liver transplant but need to be validated. The clinical practice guidelines provide recommendations for a comprehensive management of WD which will be of value to all specialties.

KEYWORDS:

AASLD, American Association for the Study of Liver Diseases; ACLF, Acute on Chronic Liver Failure; ALF, Acute Liver Failure; ALT, Alanine Transaminase; AST, Aspartate Transaminase; Cu, Copper; DP, D-Penicillamine; EASL, European Association for the Study of the Liver; GAS for WD, Global Assessment Scale for Wilson's Disease; HCC, Hepatocellular Carcinoma; INR, International Normalized Ratio; KF, Kayser-Fleischer; LT, Liver Transplantation; MARS, Molecular Absorption Recirculating System; MELD, Model for End-Stage Liver Disease; MRI, Magnetic Resonance Imaging; NGS, Next-Generation Sequencing; NWI, New Wilson's Index; PELD, Pediatric end stage liver disease; TPE, Total Plasma Exchange; TTM, Tetrathiomolybdate; WD, Wilson's Disease; Wilson's disease scoring; genetic disorder; modified Leipzig scoring; rare disease

PMID:
30765941
PMCID:
PMC6363961
[Available on 2020-01-01]
DOI:
10.1016/j.jceh.2018.08.009

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