Wilson disease: Health-related quality of life and risk for depression

Schaefer, Mark; Gotthardt, Daniel; Ganion, Nicole; Wohnsland, Sascha; Seeßle, Jessica; Stremmel, Wolfgang; Pfeiffenberger, Jan; Weiss, Karl Heinz

doi:10.1016/j.clinre.2015.09.007

Cited by 27 publications

(24 citation statements)

References 41 publications

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“…Quality of life (QoL) is one of the most important objective patient-reported outcomes of the treatment of chronic disorders; however, QoL has not been clearly investigated in WD. Only 4 studies (1 with only liver transplanted WD patients) have been performed, which aimed to verify the Health Survey Questionnaire (SF-36) and the Brief Questionnaire (WHO-BREF for QoL) in WD patients 183,184,185,186 . The main conclusion from these studies is poor QoL in patients with a long delay without WD treatment 183 , highlighting the significance of early WD diagnosis.…”

Section: Quality Of Lifementioning

confidence: 99%

Wilson disease

Członkowska

Litwin

Dušek

et al. 2018

Nat Rev Dis Primers

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618

586

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Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper. WD is caused by mutations in ATP7B, which encodes a transmembrane copper-transporting ATPase, leading to impaired copper homeostasis and copper overload in the liver, brain and other organs. The clinical course of WD can vary in the type and severity of symptoms, but progressive liver disease is a common feature. Patients can also present with neurological disorders and psychiatric symptoms. WD is diagnosed using diagnostic algorithms that incorporate clinical symptoms and signs, measures of copper metabolism and DNA analysis of ATP7B. Available treatments include chelation therapy and zinc salts, which reverse copper overload by different mechanisms. Additionally, liver transplantation is indicated in selected cases. New agents, such as tetrathiomolybdate salts, are currently being investigated in clinical trials, and genetic therapies are being tested in animal models. With early diagnosis and treatment, the prognosis is good; however, an important issue is diagnosing patients before the onset of serious symptoms. Advances in screening for WD may therefore bring earlier diagnosis and improvements for patients with WD.

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Section: Quality Of Lifementioning

confidence: 99%

Wilson disease

Członkowska

Litwin

Dušek

et al. 2018

Nat Rev Dis Primers

Self Cite

618

586

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“… [ 104 ] Adults (20–71) Exercise program 12 weeks SF-36 - Borderline ↑ HrQoL at the mental component [ 105 ] Late onset adults (35.5–60.7) Inspiratory muscle training program 8 weeks NHP - Significant ↑ HrQoL exclusively in the social isolation subscore [ 119 ] PKU Children and adults (4–44) BH4 1 year PedsQL, TAAQOL - Unchanged HrQoL and similar between responsive and non-responsive patients [ 46 ] Children and adolescents (6.6–18.7) BH4 6 months KINDL - Unchanged HrQoL and similar between responsive and non-responsive patients [ 44 ] Children and adults (10–49) BH4 1 year PKU-QOLQ - ↑ HrQoL in responders, provisional responders and non-responders in terms of impact, satisfaction [ 124 ] Wilson disease Children and adults (8–41) Orthotopic liver transplantation 97 months (mean) SF-36 - Ns difference between norm-based scores and patients who underwent transplantation [ 116 ] Adults (36.6 ± 12.9) D-penicillamine, trientine, zinc 8.1–12.6 years (mean) SF-36 - D-penicillamine-treated patients had the highest HrQoL scores compared to trientine- or zinc-treated patients. [ 140 ] Abbreviations: AQOL-4D Assessment of Quality of Life 4D, CHQ Child Health Questionnaire, HUI Health Utilities Index, LDL Low-density lipoprotein, NA non available, NHP Nottingham Health Profile, Ns No significant, PedsQL Pediatric Quality of Life Inventory, PGWBI Psychological General Well-Being Index, PLC Profile for the Chronically Ill, PODCI Pediatric Outcomes Data Collection Instrument, PKU-QOL Phenylketonuria-Quality of Life, SF -36 36-Item Short Form Survey, TAAQOL TNO-AZL ...…”

Section: Resultsmentioning

confidence: 99%

“…In line with this, longitudinal designs are a better approach to establish the natural history of the disease, pinpoint predictive factors of impaired HrQoL as well as to identify pre−/post-treatment alterations [ 41 , 43 , 52 , 70 , 139 ]. Nevertheless, variability in treatment or therapy duration in long-term follow-up studies [ 37 , 41 , 112 , 140 ] as well as previous therapies and symptom management solutions can constrain long-term analysis [ 44 , 53 , 89 , 105 , 110 , 129 , 141 ].…”

Section: Resultsmentioning

confidence: 99%

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

Pascoal

Brasil

Francisco

et al. 2018

Orphanet J Rare Dis

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BackgroundHealth-related Quality of Life (HrQoL) is a multidimensional measure, which has gained clinical and social relevance. Implementation of a patient-centred approach to both clinical research and care settings, has increased the recognition of patient and/or observer reported outcome measures (PROMs or ObsROMs) as informative and reliable tools for HrQoL assessment. Inherited Metabolic Diseases (IMDs) are a group of heterogeneous conditions with phenotypes ranging from mild to severe and mostly lacking effective therapies. Consequently, HrQoL evaluation is particularly relevant.ObjectivesWe aimed to: (1) identify patient and/or caregiver-reported HrQoL instruments used among IMDs; (2) identify the main results of the application of each HrQoL tool and (3) evaluate the main limitations of HrQoL instruments and study design/methodology in IMDs.MethodsA scoping review was conducted using methods outlined by Arksey and O’Malley. Additionally, we critically analysed each article to identify the HrQoL study drawbacks.ResultsOf the 1954 studies identified, 131 addressed HrQoL of IMDs patients using PROMs and/or ObsROMs, both in observational or interventional studies. In total, we identified 32 HrQoL instruments destined to self- or proxy-completion; only 2% were disease-specific. Multiple tools (both generic and disease-specific) proved to be responsive to changes in HrQoL; the SF-36 and PedsQL questionnaires were the most frequently used in the adult and pediatric populations, respectively. Furthermore, proxy data often demonstrated to be a reliable approach complementing self-reported HrQoL scores. Nevertheless, numerous limitations were identified especially due to the rarity of these conditions.ConclusionsHrQoL is still not frequently assessed in IMDs. However, our results show successful examples of the use of patient-reported HrQoL instruments in this field. The importance of HrQoL measurement for clinical research and therapy development, incites to further research in HrQoL PROMs’ and ObsROMs’ creation and validation in IMDs.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0953-9) contains supplementary material, which is available to authorized users.

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“…Psychiatric symptoms occur abundantly in WD, secondary to the somatic and brain pathology. Co-morbidity of psychiatric illness are, for example, major depressive disorder and bipolar disorder; 20-60% of WD patients develop depression, 90 often presenting with a high rate of suicidal attempts (4-16%). 78,91,92 Bipolar disorder has been reported in 14-18% of WD patients.…”

Section: Neurological Manifestationsmentioning

confidence: 99%

Biochemical markers for the diagnosis and monitoring of Wilson Disease

Mohr

Weiss

2019

CBR

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Wilson disease (WD) is an autosomal recessively-inherited disorder of copper metabolism and characterised by a pathological accumulation of copper. The ATP7B gene encodes for a transmembrane copper transporter essential for biliary copper excretion. Depending on time of diagnosis, severity of disease can vary widely. Almost all patients show evidence of progressive liver disease. Neurological impairments or psychiatric symptoms are common in WD patients not diagnosed during adolescence. WD is a treatable disorder, and early treatment can prevent the development of symptoms in patients diagnosed while still asymptomatic. This is why the early diagnosis of WD is crucial. The diagnosis is based on clinical symptoms, abnormal measures of copper metabolism and DNA analysis. Available treatment includes chelators and zinc salts which increase copper excretion and reduce copper uptake. In severe cases, liver transplantation is indicated and accomplishes a phenotypic correction of the hepatic gene defect. Recently, clinical development of the new copper modulating agent tetrathiomolybdate has started and direct genetic therapies are being tested in animal models. The following review focuses especially on biochemical markers and how they can be utilised in diagnosis and drug monitoring.

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Wilson disease: Health-related quality of life and risk for depression

Cited by 27 publications

References 41 publications

Wilson disease

Wilson disease

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

Biochemical markers for the diagnosis and monitoring of Wilson Disease

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