Wilson disease and psychiatric symptoms: A brief case report

Guerrero‐Jiménez, Margarita; Calahorro, C.M. Carrillo de Albornoz; Rojas, Luis Gutiérrez

doi:10.1136/gpsych-2019-100066

Cited by 11 publications

(5 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Misdiagnosis was similarly seen in our qualitative sample, with many of the patients experiencing a range of suspected diagnoses before they were diagnosed with WD. The psychiatric manifestations of WD are frequently misdiagnosed as primarily mental illness (19,20), which was re ected in the current sample, where patients who described some psychiatric issues in their initial presentation tended to experience a longer time to diagnosis. It is thought the average time between the onset of psychiatric symptoms and diagnosis of WD is 2.4 years (21).…”

Section: Discussionmentioning

confidence: 69%

“Because it is a rare disease…it needs to be brought to attention that there are things out of the norm”: A qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US

Bailey¹,

Sahota²,

et al. 2023

Preprint

View full text Add to dashboard Cite

Background Wilson disease (WD) is a genetic disorder of copper metabolism that leads to copper accumulation in various organs, primarily the liver and brain, resulting in heterogenous hepatic, neurologic, and psychiatric symptoms. Diagnosis can occur at any age, often leading to lifelong treatment. This qualitative study aims to understand the wider patient and physician experience of the diagnosis and management of WD in the US. Methods Primary data were collected from 1:1 semi structured interviews with US-based patients and physicians and thematically analyzed with NVivo. Results Twelve WD patients and 7 specialist WD physicians (hepatologists and neurologists) were interviewed. Analysis of the interviews revealed 18 themes, which were organized into 5 overarching categories: 1) Diagnosis journey, 2) Multidisciplinary approach, 3) Medication, 4) The role of insurance, and 5) Education, awareness, and support. Patients who presented with psychiatric or neurological symptoms reported longer diagnostic journeys (range 1 to 16 years) than those presenting with hepatic symptoms or through genetic screening (range 2 weeks to 3 years). All were also affected by geographical proximity to WD specialists and access to comprehensive insurance. Exploratory testing was often burdensome for patients, but receipt of a definitive diagnosis led to relief for some. Physicians emphasized the importance of multidisciplinary teams beyond hepatology, neurology, and psychiatry and recommended a combination of chelation, zinc, and a low-copper diet; however, only half the patients in this sample were on a chelator, and some struggled to access prescription zinc due to insurance issues. Caregivers often advocated for and supported adolescents with their medication and dietary regimen. Patients and physicians recommended more education and awareness for the healthcare community. Conclusions WD requires the coordination of care and medication among several specialists due to its complex nature, but many patients do not have access to multiple specialties due to geographical or insurance barriers. Because some patients cannot be treated in Centers of Excellence, easy access to reliable and up-to-date information is important to empower physicians, patients, and their caregivers in managing the condition, along with general community outreach programs.

show abstract

Section: Discussionmentioning

confidence: 69%

“Because it is a rare disease…it needs to be brought to attention that there are things out of the norm”: A qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US

Bailey¹,

Sahota²,

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

“…Also pose diagnostic challenges as they can overlap with other mental health conditions. Although common Wilsons disease can affect blood and iron http://dx.doi.org/10.52533/JOHS.2023.31209 metabolism leading to manifestations (17,18). Anemia may occur due to difficulties in absorbing copper in the tract.…”

Section: Clinical Manifestationmentioning

confidence: 99%

Etiology, Histopathology, Staging and Complication of Wilson Disease

Alharbi,

Bajahlan,

Almohsin

et al. 2023

JOHS

View full text Add to dashboard Cite

Wilsons disease is a disorder that occurs when there are mutations, in the ATP7B gene. This leads to problems with copper transport and metabolism in the body. In this review we explore the causes, effects, symptoms and management of Wilsons disease. We delve into the factors that contribute to the condition and how it affects the livers’ ability to handle copper. A key diagnostic feature is the presence of "sunset glow" hepatocytes indicating a buildup of copper. The disease manifests with symptoms affecting organs such as the liver nervous system, mind, blood, kidneys and eyes. Due to this range of symptoms an accurate diagnosis requires an approach. Prognosis and tailored treatment strategies can be aided by staging using the Leipzig scoring system. We discuss complications associated with Wilsons disease. Highlight its impact on organs underscoring why timely diagnosis is crucial. The management section outlines approaches including medication to remove copper from the body or regulate zinc levels as well as dietary modifications to control copper absorption. Regular monitoring through liver function tests, copper measurements and neurological assessments is essential for managing this condition. Genetic counseling plays a role in helping individuals make decisions about their health when it comes to Wilsons disease. In cases where other treatments have failed or are inadequate, for controlling symptoms or preventing organ damage liver transplantation may be considered as a resort option. Finally, we conclude by highlighting how ongoing research continues to improve our understanding of Wilsons disease and refine methods and treatment strategies.

show abstract

“…The molecular links between ATP7B inactivation and these pathologies remain poorly understood despite significant efforts and some progress in recent years [10][11][12][13]. Psychiatric WD can be misdiagnosed as schizophrenia [14,15]; and the delays in the diagnosis and treatment of neurologic WD are common and can be fatal [16].…”

Section: Introductionmentioning

confidence: 99%

Atp7b-dependent choroid plexus dysfunction causes transient copper deficit and metabolic changes in the developing mouse brain

Washington-Hughes

Roy²,

Seneviratne³

et al. 2023

PLoS Genet

View full text Add to dashboard Cite

Copper (Cu) has a multifaceted role in brain development, function, and metabolism. Two homologous Cu transporters, Atp7a (Menkes disease protein) and Atp7b (Wilson disease protein), maintain Cu homeostasis in the tissue. Atp7a mediates Cu entry into the brain and activates Cu-dependent enzymes, whereas the role of Atp7b is less clear. We show that during postnatal development Atp7b is necessary for normal morphology and function of choroid plexus (ChPl). Inactivation of Atp7b causes reorganization of ChPl’ cytoskeleton and cell-cell contacts, loss of Slc31a1 from the apical membrane, and a decrease in the length and number of microvilli and cilia. In ChPl lacking Atp7b, Atp7a is upregulated but remains intracellular, which limits Cu transport into the brain and results in significant Cu deficit, which is reversed only in older animals. Cu deficiency is associated with down-regulation of Atp7a in locus coeruleus and catecholamine imbalance, despite normal expression of dopamine-β-hydroxylase. In addition, there are notable changes in the brain lipidome, which can be attributed to inhibition of diacylglyceride-to-phosphatidylethanolamine conversion. These results identify the new role for Atp7b in developing brain and identify metabolic changes that could be exacerbated by Cu chelation therapy.

show abstract

Wilson disease and psychiatric symptoms: A brief case report

Cited by 11 publications

References 19 publications

“Because it is a rare disease…it needs to be brought to attention that there are things out of the norm”: A qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US

“Because it is a rare disease…it needs to be brought to attention that there are things out of the norm”: A qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US

Etiology, Histopathology, Staging and Complication of Wilson Disease

Atp7b-dependent choroid plexus dysfunction causes transient copper deficit and metabolic changes in the developing mouse brain

Contact Info

Product

Resources

About