Cognitive and psychiatric symptoms in Wilson disease

Zimbrean, Paula C.; Seniów, Joanna

doi:10.1016/b978-0-444-63625-6.00011-2

Cited by 26 publications

(12 citation statements)

References 97 publications

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“…All textbooks and courses on WD emphasize the classic psychiatric presentations of the disease and every physician has learned that WD should be suspected in any young patient with psychiatric features. Studies confirmed that up to 64.8% of patients reported psychiatric symptoms (with or without hepatic or neurologic findings) at their initial presentation and up to 20% of patients had seen a psychiatrist prior to the diagnosis of WD (64). Despite these high figures, the diagnosis of a purely psychiatric for m of W D remains ex t remely soph ist icated and is responsible for a long diagnostic delay (average of 2.4 years, as reported by the meta-analysis of Zimbrean and Schilsky) (65).…”

Section: Eye and Brain Presentations At Diagnosismentioning

confidence: 90%

“…Despite these high figures, the diagnosis of a purely psychiatric for m of W D remains ex t remely soph ist icated and is responsible for a long diagnostic delay (average of 2.4 years, as reported by the meta-analysis of Zimbrean and Schilsky) (65). Acute or chronic psychosis (66)(67)(68), mania (69), obsessive-compulsive disorder, depressive disorder with or without suicidal ideation (70,71), catatonia, behavioural changes are the main presenting syndromes reported in the literature (64). This wide and non-specific clinical spectrum with symptoms usually worsened by antipsychotics drugs explain the difficulty of diagnosis and should encourage physicians to look more often to the copper triad (Cp, serum copper and 24-hour urinary copper excretion).…”

Section: Eye and Brain Presentations At Diagnosismentioning

confidence: 99%

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Challenges in the diagnosis of Wilson disease

Poujois

2019

Ann. Transl. Med

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The understanding and management of Wilson disease (WD) have dramatically improved since the first description of the disease by K. Wilson more than a century ago. However, the persistent long delay between the first symptoms and diagnosis emphasizes challenges in diagnosing earlier this copper overload disorder. As a treatable disease, WD should be detected early in the course of the disease by any health professionals at any care level, but the rare prevalence of the disease explains the lack of awareness of referring physicians. The most important challenge is to train physicians to recognize atypical or rare symptoms of WD that will lead to discuss the diagnosis more systematically. Atypia can come from the age of onset, the liver [non-alcoholic steatohepatitis (NASH) presentation], the central or peripheral nervous system (neuropathy, epilepsy, sleep disorders…) or may be due to lesions of other organs (renal manifestations, osteo-articular disorders or endocrine disturbances). Isolated biological anomalies, rare radiological findings or inadequate interpretation of copper test may also lead to misdiagnosis. The second challenge is to confirm the diagnosis faster and more effectively so as not to delay the initiation of treatment, and expand family screening as the genetic prevalence is higher than previously expected. Generalization of the exchangeable copper assay and the next generation sequencing (NGS) are two promising ways to overcome this ultimate challenge. By drawing attention to the earliest and rare symptoms and to new biomarkers and diagnostic tools, we hope that this article will increase diagnostic awareness and reduce delays so that patients can start their treatment earlier in the course of the illness and thus have a better disease prognosis.

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Section: Eye and Brain Presentations At Diagnosismentioning

confidence: 90%

Section: Eye and Brain Presentations At Diagnosismentioning

confidence: 99%

Challenges in the diagnosis of Wilson disease

Poujois

2019

Ann. Transl. Med

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“…Psychiatric symptoms are nonspecific and may not occur together with neurologic disease. (23,24) Whether psychiatric symptoms represent a central nervous system involvement of WD or are due to other independent causes is difficult to assess, and a psychiatric assessment was not included in this study. To learn more about psychiatric involvement in WD, a psychopathologic assessment needs to be done in newly diagnosed cases.…”

Section: Discussionmentioning

confidence: 99%

Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease

Stremmel²,

et al. 2019

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“…These symptoms may precede the hepatic and neurological symptomatology by a significant period of time. Other psychiatric manifestations include personality changes (antisocial behavior, irritability, and disinhibition), mood disorders (bipolar disorders, manic and hypomanic syndrome, depression, suicidal attempts), psychosis, anorexia, dyssomnias, sexual dysfunction, and cognitive impairment (7)(8)(9).…”

Section: Discussionmentioning

confidence: 99%