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Hepatolenticular Degeneration (Wilson's Disease)

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A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.

Also Known As:

Wilson's Disease; Wilson Disease; Hepatic Form of Wilson Disease; Hepato-Neurologic Wilson Disease; Hepatocerebral Degeneration; Kinnier-Wilson Disease; Progressive Lenticular Degeneration; Westphal-Strumpell Syndrome; Wilson Disease, Hepatic Form; Cerebral Pseudoscleroses; Degeneration, Hepatocerebral; Degeneration, Hepatolenticular; Degeneration, Neurohepatic; Degeneration, Progressive Lenticular; Degenerations, Hepatocerebral; Degenerations, Neurohepatic; Diseases, Hepato-Neurologic Wilson; Diseases, Kinnier-Wilson; Hepato Neurologic Wilson Disease; Hepato-Neurologic Wilson Diseases; Hepatocerebral Degenerations; Kinnier Wilson Disease; Kinnier-Wilson Diseases; Lenticular Degeneration, Progressive; Neurohepatic Degenerations; Pseudoscleroses, Cerebral; Pseudosclerosis, Cerebral; Westphal Strumpell Syndrome; Westphal-Strumpell Syndromes; Wilson Disease, Hepato-Neurologic; Wilson Diseases, Hepato-Neurologic; Wilsons Disease; Cerebral Pseudosclerosis; Neurohepatic Degeneration; Pseudosclerosis

Networked: 2730 relevant articles (97 outcomes, 226 trials/studies)

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Disease Context: Research Results

Related Diseases

1.	Liver Diseases (Liver Disease)
2.	Cystinuria
3.	Rheumatoid Arthritis
4.	Hepatolenticular Degeneration (Wilson's Disease)
5.	Hemolytic Anemia

Experts

1.	Lutsenko, Svetlana: 38 articles (09/2015 - 01/2002)
2.	Stremmel, Wolfgang: 29 articles (09/2015 - 09/2004)
3.	Brewer, George J: 27 articles (01/2015 - 03/2002)
4.	Członkowska, Anna: 25 articles (10/2015 - 02/2006)
5.	Ferenci, Peter: 23 articles (07/2015 - 02/2002)
6.	Schilsky, Michael L: 22 articles (09/2015 - 02/2002)
7.	Merle, Uta: 19 articles (09/2015 - 04/2006)
8.	Weiss, Karl Heinz: 18 articles (06/2015 - 04/2006)
9.	Litwin, Tomasz: 17 articles (10/2015 - 04/2008)
10.	Loudianos, Georgios: 14 articles (09/2015 - 01/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hepatolenticular Degeneration:

1.	ZincIBA 10/01/2011 - "In 4 young pediatric patients with presymptomatic Wilson disease, we found zinc monotherapy beginning at time of diagnosis to be safe and highly effective for follow-up intervals between 1 and 2 years. " 12/01/2015 - "Zinc therapy is considered a good option in Wilson disease (WD), as a first-line treatment in presymptomatic children and a maintenance therapy after the initial chelator therapy. " 05/01/2009 - "Zinc is an effective treatment for Wilson disease. " 08/04/1984 - "Effective treatment of Wilson's disease with oral zinc sulphate: two case reports." 10/01/1982 - "Effective treatment of Wilson's disease with oral zinc."
2.	CopperIBA 12/01/1978 - "Urinary copper excretion was significantly elevated in response to 30 mg/kg of DMS, suggesting that the drug might also be useful for the treatment of Wilson's disease." 02/01/2007 - "Chelating agent is the mainstay of treatment in Wilson's disease, which is an inherited disorder of hepatic copper metabolism. " 03/01/2005 - "[Genetic disorders of copper transport--diagnosis and new treatment for the patients of Wilson's disease]." 06/01/1998 - "An improved method for the study of copper metabolism in Wilson's disease, using a stable, rather than radioactive, copper isotope (65Cu) has recently been described. " 11/01/1996 - "Although results of neurologic examination, speech pathology examination, and 24-h urine copper level analysis in symptomatic Wilson's disease patients improved during the study period, KF ring regression did not correlate with the improvement in these clinical parameters (p > 0.05). "
3.	Penicillamine (Cuprimine)FDA Link 05/01/2009 - "Nevertheless, according to currently available data, patients with hepatic presentation of Wilson disease are probably most effectively treated by D-penicillamine. " 12/01/1984 - "The best treatment for fulminant Wilson's disease is prevention by diagnosis in a pre-symptomatic stage and institution of carefully supervised life-long therapy with penicillamine." 04/12/1986 - "A patient who presented with severe hepatic Wilson's disease at age 14 responded well to treatment with penicillamine and remained in good health for a further 20 years, although she became somewhat careless about her medication towards the end of this period. " 06/28/1999 - "Treatment with penicillamine in Indian childhood disease, which probable has the same etiology, is effective when it is started early enough as well as in Wilson's disease. " 09/01/1993 - "D-penicillamine, an orally-administered chelating agent, is effective for Wilson's disease (WD). "
4.	tetrathiomolybdate (ammonium tetrathiomolybdate)IBA 02/10/2009 - "Tetrathiomolybdate (TTM) is a promising new treatment for Wilson's disease which has been demonstrated both in an animal model and in clinical trials. " 05/01/1992 - "A new experimental drug, tetrathiomolybdate, shows promise in the initial treatment of patients with Wilson disease. " 05/01/2004 - "Studies of the use of ammonium tetrathiomolybdate as an alternative chelating agent for the initial treatment of neurologic Wilson's disease are still in the experimental phase. " 03/01/2003 - "Open-label study of 55 untreated patients (22 of them new) presenting with neurologic Wilson disease treated with tetrathiomolybdate varying from 120 to 410 mg/d for 8 weeks and then followed up for 3 years. " 10/01/2014 - "Tetrathiomolybdate (TM) is a unique anticopper drug developed for the treatment of the neurologic presentation of Wilson's disease, for which it is excellent. "
5.	Trientine (Trien)FDA Link 07/09/2011 - "Trientine (TETA dihydrochloride) has been used since the mid-1980s as a second-line treatment for Wilson's disease, and our recent clinical studies have reinforced the impression that it is likely to be safe for long-term use in patients with diabetes and related metabolic disorders. " 04/23/1999 - "In this study, trientine and ascorbate, known to have a beneficial effect in an animal model of Wilson disease, were administered to transgenic mice overexpressing a mutated human SOD1 (G93A). " 09/01/1993 - "[A study of trientine therapy in Wilson's disease with neurological symptoms]." 02/01/2016 - "Wilson's disease with cognitive impairment and without extrapyramidal signs: improvement of neuropsychological performance and reduction of MRI abnormalities with trientine treatment." 05/01/2015 - "To prospectively evaluate once-daily trientine as therapy for Wilson disease. "
6.	Zinc Acetate FDA Link 12/01/2010 - "The authors conclude that zinc acetate is an effective and safe treatment for Japanese patients with Wilson disease." 01/01/2007 - "The safety of the zinc acetate allowed us to avoid other potentially toxic chelating drugs; this observation is in line with the growing evidence on the efficacy of the drug in the treatment of Wilson's disease. " 03/01/2001 - "The objectives were to evaluate appropriate doses of zinc acetate and its efficacy for the maintenance management of Wilson's disease in pediatric cases. " 12/01/2010 - "The 37 patients that comprise this study were found to have Wilson disease using clinical and biochemical tests and were administrated zinc acetate for 48 weeks. " 12/01/2010 - "In this study, the authors used zinc acetate to treat Japanese patients with Wilson disease and investigated its efficacy. "
7.	Ceruloplasmin (Ferroxidase)IBA 11/01/2009 - "Our data suggest that the enzymatic ceruloplasmin assay is superior to the immunologic assay in diagnosing Wilson's disease and should become the preferred method." 01/01/1979 - "Clinical amelioration, clearance of Kayser-Fleischer rings and rising of ceruloplasmin concentration are described in a patient with the classical findings of Wilson's disease. " 08/01/2008 - "In this study, we evaluated various decision thresholds of serum ceruloplasmin concentration in the diagnosis of Wilson disease based on genotype-verified Wilson disease patients, carriers, and normal individuals. " 09/01/2006 - "Our study goals were to determine the feasibility of a population screening for Wilson disease using dried blood spots and to characterize the base-line ceruloplasmin concentration in newborn blood spots of patients with Wilson disease. " 04/14/2006 - "Patients with an established diagnosis of Wilson disease but normal ceruloplasmin blood levels were chosen for our study (n = 14). "
8.	Chelating AgentsIBA 03/23/1958 - "[Pure hepatic form of Wilson's disease in infant; successful therapy with chelating agents]." 06/01/1990 - "We conclude that long-term Zn treatment in Wilson's disease can be a safe and effective alternative to Cu chelating agents. " 01/01/1968 - "[Anatomo-clinical study of a case of Wilson's disease treated with chelating agents for 5 years]." 03/31/1959 - "[Clinical and biological study of a case of Wilson's disease in pure hepatic form in an infant; favorable effects of therapy with chelating agents]." 01/01/1959 - "[Clinical and biological study of Wilson's disease with pure hepatic form in an infant; successful results of therapy with chelating agents]."
9.	IronIBA 06/01/2010 - "Therefore, the present study was carried out to elucidate iron metabolism in Atp7b(-/-) mice, an animal model of Wilson disease. " 11/01/2001 - "Four male patients with Wilson's disease were enrolled in this study of pre- and post-treatment iron metabolism. " 05/01/2000 - "Increased cerebral iron uptake in Wilson's disease: a 52Fe-citrate PET study." 05/01/2012 - "Wilson's disease: does iron metabolism impact phenotypic presentation?" 01/01/2012 - "Iron metabolism and the role of HFE gene polymorphisms in Wilson disease."
10.	SaltsIBA 02/01/2003 - "The combined therapy with penicillamine and zinc salts was effective in treatment of patients with Wilson's disease." 02/01/2003 - "In this study, the effect of the therapy with combined penicillamine and zinc salts was evaluated based on the follow-up observations of 21 patients with Wilson's disease. " 02/01/2003 - "[Treatment of Wilson's disease with penicillamine and zinc salts: a follow-up study]." 09/01/2000 - "The group investigated comprised 45 individuals with Wilson's disease treated with penicillamine or zinc salts and a control group of 36 healthy individuals. " 10/01/2009 - "Treatments for Wilson disease include chelating agents and zinc salts and liver transplantation. "

Therapies and Procedures

1.	Liver Transplantation 12/01/1990 - "The only effective treatment for fulminant Wilson's disease is liver transplantation, which may lead to reversal of the underlying disease. " 03/01/2008 - "Liver transplantation is a safe and effective treatment for both acute and chronic presentations of Wilson's disease. " 01/01/1998 - "Although neuropsychiatric manifestations are prominent in some patients with Wilson disease, there is little published information regarding the efficacy of liver transplantation for these patients. " 11/01/1993 - "Several metabolic disorders that produce liver injury, such as Wilson's disease and alpha-1-antitrypsin deficiency, are cured by liver transplantation. " 04/01/1990 - "Improvement in chronic hepatocerebral degeneration following liver transplantation."
2.	Transplantation (Transplant Recipients) 01/01/2011 - "Recent studies have demonstrated that normal bone marrow (BM) cells transplantation can correct liver injury in a mouse model of Wilson disease (WD). " 12/01/1996 - "This study investigated whether intrahepatic transplantation of normal hepatocytes can prevent Wilson's disease in LEC rats. " 05/01/2014 - "Current status of human hepatocyte transplantation and its potential for Wilson's disease." 12/01/2013 - "Transient liver elastography data showed some change from 65 kPa, 33 kPa, 34.8 kPa and undetectable to 46.4 kPa, 19.8 kPa, 29.1 kPa and 67.8 kPa at 4 weeks after transplantation in a patient with Wilson disease, a patient with HCV, and two patients with HBV. " 03/01/2012 - "There are many problems in transplantation for Wilson's disease. "
3.	Chelation Therapy (Therapy, Chelation) 12/01/2007 - "Lifelong chelation therapy is essential in all Wilson's disease patients. " 03/01/1995 - "Psychosis in an adolescent patient with Wilson's disease: effects of chelation therapy." 12/01/1994 - "We report three young women with Wilson's disease; one had a fulminant form and was transplanted and the other two responded to chelation therapy. " 04/01/1983 - "The effect of chelation therapy on the amino aciduria and peptiduria of Wilson's disease." 04/01/2014 - "Most patients stabilized (35%) or improved on chelation therapy (26% fully recovered, 24% improved), but 15% deteriorated; 8% required a liver transplant, and 7.4% died within the observation period (71% of deaths were related to Wilson disease). "
4.	Tissue Therapy (Cell Therapy) 05/01/2009 - "We concluded that pro-oxidant perturbations were uniquely effective for cell therapy in Wilson disease because of the nature of preexisting hepatic damage." 05/01/2014 - "Nonetheless, cell therapy studies in animal models elicited major differences in the mechanisms driving liver repopulation with transplanted hepatocytes in Wilson's disease versus nondiseased settings. " 05/01/2014 - "Recently, noninvasive imaging was developed to demonstrate Cu removal from the liver, including after cell therapy in Wilson's disease. " 05/01/2014 - "The ability to repopulate the liver with healthy hepatocytes raises the possibility of cell therapy in Wilson's disease. " 05/01/2014 - "To achieve permanent correction of Wilson's disease by a cell therapy approach, replacement of diseased hepatocytes with healthy hepatocytes is desirable. "
5.	Plasma Exchange 01/01/2009 - "Clinical improvement of a patient with severe Wilson's disease after a single session of therapeutic plasma exchange." 12/07/1999 - "Plasma exchange for hemolytic crisis in Wilson disease." 04/01/1992 - "Plasma exchange for fulminant Wilson disease." 07/01/2006 - "Successful plasma exchange treatment in hemolytic crisis of Wilson's disease preventing liver transplantation." 10/01/2003 - "Bridging use of plasma exchange and continuous hemodiafiltration before living donor liver transplantation in fulminant Wilson's disease."