Neurological-Type Wilson Disease: Epidemiology, Clinical Manifestations, Diagnosis, and Management

Kipker, Nathaniel; Alessi, Kaitlyn; Bojkovic, Marko; Padda, Inderbir; Parmar, Mayur

doi:10.7759/cureus.38170

Cited by 4 publications

(3 citation statements)

References 40 publications

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“…Therefore, novel therapeutic approaches were warranted to improve the management of neuropsychiatric symptoms. In this context, several animal studies have generated promising results ( 6 , 11 , 12 ). However, there are no ongoing reported clinical studies in neurological-type WD patients.…”

Section: Discussionmentioning

confidence: 99%

Case report: Treatment of Wilson’s disease by human amniotic fluid administration

Liang,

Xin,

Shen

et al. 2024

Front. Med.

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BackgroundWilson’s disease (WD) is not an uncommon genetic disease in clinical practice. However, the current WD therapies have limitations. The effectiveness of stem cell therapy in treating WD has yet to be verified, although a few animal studies have shown that stem cell transplantation could partially correct the abnormal metabolic phenotype of WD. In this case report, we present the therapeutic effect of human amniotic fluid containing stem cells in one WD patient.Case presentationA 22-year-old Chinese woman was diagnosed with WD 1 year ago in 2019. The available drugs were not effective in managing the progressive neuropsychiatric symptoms. We treated the patient with pre-cultured human amniotic fluid containing stem cells. Amniotic fluid was collected from pregnant women who underwent induced labor at a gestational age of 19–26 weeks, and then, the fluid was cultured for 2 h to allow stem cell expansion. Cultured amniotic fluid that contained amniotic fluid derived stem cells (AFSC) in the range of approximately 2.8–5.5 × 104/ml was administrated by IV infusion at a rate of 50–70 drops per minute after filtration with a 300-mu nylon mesh. Before the infusion of amniotic fluid, low-molecular-weight heparin and dexamethasone were successively administrated. The patient received a total of 12 applications of amniotic fluid from different pregnant women, and the treatment interval depended on the availability of amniotic fluid. The neuropsychiatric symptoms gradually improved after the stem cell treatment. Dystonia, which included tremor, chorea, dysphagia, dysarthria, and drooling, almost disappeared after 1.5 years of follow-up. The Unified Wilson’s Disease Rating Scale score of the patient decreased from 72 to 10. Brain magnetic resonance imaging (MRI) showed a reduction in the lesion area and alleviation of damage in the central nervous system, along with a partial recovery of the lesion to the normal condition. The serum ceruloplasmin level was elevated from undetectable to 30.8 mg/L, and the 24-h urinary copper excretion decreased from 171 to 37 μg. In addition, amniotic fluid transplantation also alleviates hematopoietic disorders. There were no adverse reactions during or after amniotic fluid administration.ConclusionAmniotic fluid administration, through which stem cells were infused, significantly improves the clinical outcomes in the WD patient, and the finding may provide a novel approach for managing WD effectively.

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Section: Discussionmentioning

confidence: 99%

Case report: Treatment of Wilson’s disease by human amniotic fluid administration

Liang,

Xin,

Shen

et al. 2024

Front. Med.

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“…In the absence of a functional ATB7B protein, copper is no longer eliminated correctly in the bile and accumulates in tissues to toxic levels, where it may lead to irreversible hepatic injury and neurodegeneration[ 1 , 5 ]. Moreover, around 30%-40% of patients with WD present with psychiatric symptoms, such as depression or acute psychosis[ 6 ]. Based on clinical studies, the prevalence of WD has been estimated to be between 1:30,000 and 1:50,000 (2 to 3.3 cases per 100000) in most countries[ 7 ].…”

Section: Introductionmentioning

confidence: 99%

Characteristics of patients with Wilson disease in the United States: An insurance claims database study

Daniel-Robin,

Kumar,

Benichou

et al. 2024

World J Hepatol

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BACKGROUND Wilson disease (WD) is a progressive, potentially fatal degenerative disease affecting the liver and central nervous system. Given its low prevalence, collecting data on large cohorts of patients with WD is challenging. Comprehensive insurance claims databases provide powerful tools to collect retrospective data on large numbers of patients with rare diseases. AIM To describe patients with WD in the United States, their treatment and clinical outcome, using a large insurance claims database. METHODS This retrospective, longitudinal study was performed in the Clarivate Real-World Data Product database. All patients with ≥ 2 claims associated with an International Classification of Diseases 10 (ICD-10) diagnostic code for WD (E83.01) between 2016 and 2021 were included and followed until death or study end. Patients were divided into two groups by whether or not they were documented to have received a specific treatment for WD. Clinical manifestations, hospitalisations, liver transplantation and death were documented. RESULTS Overall, 5376 patients with an ICD-10 diagnostic code for WD were identified. The mean age at inclusion was 41.2 years and 52.0% were men. A specific WD treatment was documented for 885 patients (15.1%), although the number of patients taking zinc salts may be underestimated due to over the counter purchase. At inclusion, the mean age of patients with a documented treatment was 36.6 ± 17.8 years vs 42.2 ± 19.6 years in those without a documented treatment. During follow-up, 273 patients (5.1%) died. Compared with the American general population, the standardised mortality ratio was 2.19. The proportion of patients with a documented WD-specific treatment who died during follow-up was 4.0% and the mean age at death 52.7 years. CONCLUSION Patients treated for WD in the United States had an excess early mortality compared with the American population. These findings indicate that there is a significant unmet need for effective treatment for WD in the United States.

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“…The incidence of WD is one in 3000 people worldwide, although prevalence differs by geographical region and seems to be higher in the Asian population than in the Caucasian population. The highest disease rates are found in the populations of Costa Rica (4.9/100,000 inhabitants), Germany (2.5/100,000 inhabitants), Japan (3.3/100,000 inhabitants), and Austria [ 3 , 4 ].…”

Section: Introductionmentioning

confidence: 99%

Obesity as a Confounding Factor in the Diagnosis of Wilson’s Disease: Case Report of Two Siblings with the Same Genotype but Different Clinical Courses

Bracciamà,

Sapuppo,

Rapisarda

et al. 2024

CIMB

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Wilson’s disease (WD) is a biallelic disease-causing variant in the ATP7B gene on chromosome 13q14.3 that results in copper accumulation in many organs, particularly the liver and brain. The phenotypic spectrum is wide and symptoms at onset can be heterogeneous. We describe two Sicilian siblings, a young man and his elder sister, both compound heterozygous for the variants c.1286-2A>G and c.2668G>A (p.Val890Met) in the ATB7B gene. The male patient presented with liver cirrhosis, which quickly progressed to end-stage liver disease (Child–Pugh score = C10), while his sister had moderate steatotic liver disease (SLD). Our findings highlight that SLD may not always be related to obesity in overweight patients, especially when there are other potential risk factors such as a family history of chronic liver disease, or the persistence of high transaminase despite the adoption of adequate dietary and pharmacological intervention. Screening for conditions such as WD could identify patients at risk of developing SLD and avoid delays in diagnosis. Phenotypic variability in WD is considerable; therefore, further studies are needed to identify which WD patients have a greater risk of developing SLD and determine factors that can predict the severity of the disease.

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Neurological-Type Wilson Disease: Epidemiology, Clinical Manifestations, Diagnosis, and Management

Cited by 4 publications

References 40 publications

Case report: Treatment of Wilson’s disease by human amniotic fluid administration

Case report: Treatment of Wilson’s disease by human amniotic fluid administration

Characteristics of patients with Wilson disease in the United States: An insurance claims database study

Obesity as a Confounding Factor in the Diagnosis of Wilson’s Disease: Case Report of Two Siblings with the Same Genotype but Different Clinical Courses

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