Advances in Diagnosis and Management of Multisystem Wilson’s Disease
A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".
Deadline for manuscript submissions: 30 April 2026 | Viewed by 29
Special Issue Editors
Interests: Wilson’s disease; neurodegeneration with brain iron accumulation; stroke; multiple sclerosis; clinical trials
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Wilson’s disease (WD) is an autosomal recessive, multi-system disorder of copper metabolism characterized by pathological copper accumulation in various tissues (primarily the liver and brain), leading to organ damage and clinical symptoms—predominantly hepatic and neuropsychiatric. The clinical spectrum of WD is broad, including variations in age of onset, predominant phenotypes, and clinical manifestations. As such, the management and treatment of WD require the involvement of multiple medical specialists (e.g., hepatologists, neurologists, psychiatrists, ophthalmologists, speech therapists, dietitians, etc.).
WD can be effectively treated with anti-copper agents (chelators or drugs that reduce copper absorption from the digestive tract). In select cases, liver transplantation is a treatment option, particularly for individuals with significant hepatic injury. Early diagnosis and initiation of anti-copper therapy are critical for achieving favorable outcomes in WD. However, challenges remain, such as choosing the appropriate drug, managing adverse drug reactions, and establishing a differential diagnosis.
Advances in WD diagnosis are being made, particularly through improvements in genetics, neuroradiology, and serum copper metabolism biomarkers. Treatment options are also evolving, with new developments in gene therapy, anti-copper drugs, and symptomatic treatment. Additionally, monitoring of WD therapy is being refined, with the introduction of novel serum and neuroradiological biomarkers. New aspects of clinical WD symptoms, such as cognition, sleep disturbances, and dysfunctions of smell and taste, are being extensively investigated.
Recently, several copper metabolism disorders that mimic WD have been described, some of which were initially misdiagnosed as WD. It is important to increase awareness of these conditions.
The aim of this Special Issue is to provide a platform for the latest research on the diagnosis and treatment of WD, emphasizing the importance of multidisciplinary involvement. We invite submissions of various types of papers, including research articles, up-to-date reviews, case reports, and commentaries. We also encourage the formulation of hypotheses based on current knowledge that may inspire future research.
We look forward to receiving your contributions.
Dr. Tomasz Litwin
Dr. Agnieszka Antos
Guest Editors
Manuscript Submission Information
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Keywords
- Wilson’s disease
- brain magnetic resonance imaging
- biomarkers
- copper metabolism
- Wilson’s disease mimicking disorders
- zinc
- chelators
- liver transplantation
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