A review and update on the diagnosis and treatment of neuropsychiatric Wilson disease

ABSTRACT

Introduction: This paper reviews the presenting signs and symptoms of Wilson’s disease, with an emphasis on the recognition and treatment of neuropsychiatric symptoms.

Areas covered: A literature search was conducted using PubMed.gov utilizing the following keywords: Wilson disease, neuropsychiatric, psychiatric symptoms, treatment, antipsychotics, mood stabilizer, psychotherapy, antidepressant, ATP7B. The diagnosis of Wilson’s disease and the treatment of hepatic and neuropsychiatric symptoms are reviewed.

Expert opinion: Wilson’s disease is a rare autosomal recessive disorder with a heterogeneous presentation. Prominent neuropsychiatric symptoms can cloud the initial diagnosis, delaying treatment. Early disease recognition and prompt treatment to restore copper balance is critical in mitigating neuropsychiatric symptoms. Lifetime adherence to maintenance treatment with a chelating agent or zinc is vital for prevention or recurrence of symptoms. Education and supportive psychotherapy have been shown to improve medication adherence. If a psychotropic medication is needed, preference should be given to one with a low risk for extrapyramidal symptoms and hepatotoxicity.

KEYWORDS:

• Wilson disease
• neuropsychiatric
• chelation
• psychotropic medications
• copper
• movement disorders
• dyskinesia
• ATP7B

Article highlights

• The diagnosis of Wilson’s disease can be challenging due to its heterogeneous presentation, especially in cases with predominantly neuropsychiatric symptoms. At times, Wilson’s disease has been referred to as ‘the great masquerader’.

• Prompt diagnosis and the initiation of chelation or zinc therapy to normalize copper balance can prevent or reverse symptoms of Wilson’s disease.

• Psychotropic medications can be used concurrently with de-coppering agents. Choose agents with a low risk of extrapyramidal symptoms and hepatotoxicity. The authors recommend lithium for mania, quetiapine for psychosis.

• Lifetime adherence to maintenance treatment and routine monitoring are necessary. Non-adherence can result in irreversible hepatic injury and worsening neuropsychiatric symptoms.

• Supportive psychotherapy has been shown to improve treatment adherence.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded