ReviewAnnals of translational medicine2019
Challenges in the diagnosis of Wilson disease.
Review in Annals of translational medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review.Biochemical genetics · 2025Pooled it
- Diagnostic challenges and mimicking disorders of Wilson's Disease: A comprehensive review.Caspian journal of internal medicine · 2026Review
- Analyses ofHuman mutation · 2026Article
- Biomarker Discovery in Wilson's Disease-A Path Toward Improved Diagnosis and Management: A Comprehensive Review.Molecular neurobiology · 2025Review
- Maternal and Fetal Outcomes of Pregnancies in Wilson's Disease: A Single-Centre Real-Life Experience.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2025Article
- Comparative management practices of Wilson disease in Californian and Italian providers.Journal of health, population, and nutrition · 2025Article
- A Case of Wilson's Disease With Early Neuropsychiatric and Late Hepatic Manifestations.Cureus · 2025Article
- A rare presentation of Wilson disease with normal levels of serum ceruloplasmin and copper and MODY: A case report.Medicine · 2025Article
- Exchangeable Copper Excess and Zinc Deficiency in the Serum of Patients with Colorectal Cancer.Biological trace element research · 2025Article
- Pitfalls in the Diagnosis of Wilson Disease.Current neurology and neuroscience reports · 2025Review
- Practical and Multidisciplinary Review on Wilson Disease: The Portuguese Perspective.GE Portuguese journal of gastroenterology · 2025Review
- Wilson disease combined with polycystic ovary syndrome-clinical features, treatment, and outcome in Chinese patients.BMC endocrine disorders · 2025Article
- The relationship between psychological resilience, perceived social support, acceptance of illness and mindfulness in patients with hepatolenticular degeneration.Scientific reports · 2025Article
- Integrated proteomics and single-cell transcriptomics reveal potential therapeutic targets in Wilson's disease patients.Frontiers in immunology · 2025Article
- Epidemiology and economic burden of Wilson disease in France: A nationwide population-based study.Journal of inherited metabolic disease · 2025Article
- Current Management of Neurological Wilson's Disease.Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Review
- Minimal Criteria to Screen for Wilson Disease: A Delphi Consensus in the United States.International journal of hepatology · 2025Article
- Acute Encephalopathy and Refractory Hypokalemia in a 12-Year-Old Boy.Iranian journal of child neurology · 2025Article
- Unmasking Wilson Disease: A Rare Paediatric Case of Haemolysis and Hepatic Dysfunction Without Neurological Features.Cureus · 2025Article
- Subnormal Serum Liver Enzyme Levels: A Review of Pathophysiology and Clinical Significance.Journal of clinical and translational hepatology · 2024Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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