Challenges and suggestions for precise diagnosis and treatment of Wilson’s disease

Dong, Yi; Wu, Zhi‐Ying

doi:10.1007/s12519-021-00475-4

Cited by 13 publications

(6 citation statements)

References 16 publications

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“…During a 3-time hospitalization in 9 months, he was given sodium dimercaptopropane sulfonate (DMPS) through intravenous infusion for copper-chelation, zinc gluconate to inhibit the absorption of copper, folic acid and mecobalamin to nourish the nerves, and symptomatic treatments such as improving mood with Citalopram Hydrobromide tablets ( 17 ). After a regular low-copper diet and D-penicillamine 125 mg tid intake at home, the symptoms of unsteady walking, blurred vision, altered mental status, slurred speech, and other symptoms have improved compared with the previous.…”

Section: Resultsmentioning

confidence: 99%

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Acute-Onset Visual Impairment in Wilson's Disease: A Case Report and Literature Review

Zheng

Sun

et al. 2022

Front. Neurol.

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ObjectiveWe reported the case of a patient with Wilson's disease (WD) with acute-onset visual impairment and summarized previously reported cases to make physicians aware of the complicated clinical expressions of WD and improve diagnosis efficiency.MethodsThe patient was recruited from the Second Affiliated Hospital of Zhejiang University School of Medicine. Clinical data, including cranial images, laboratory tests, and ophthalmic findings were obtained. The PubMed database was searched for published cases of WD with visual impairment.ResultsWe reported a 22-year-old male who presented with hand tremor, personality change, and acute-onset binocular vision blurring. WD was considered to be closely correlated with neuropsychiatric and ocular involvements. After low-copper diet and regular copper-chelation therapy, the related symptoms improved compared to before. Six WD cases of optic neuropathy have been reported, including ours. The patients usually had neurological and/or hepatic symptoms for a period without any treatment. All the reported cases manifested as acute episodes of visual changes, and the ocular manifestations improved after copper-chelation treatment.ConclusionsExcess copper accumulation may be a rare cause of visual impairment in patients with WD. While the etiology behind patients' acute-onset visual impairment remained uncertain, the possibility of WD should be considered through neuropsychiatric and hepatic symptoms, corneal K-F rings, decreased serum ceruloplasmin, and low likelihood or exclusion of other causes. Clinicians need to recognize this rare manifestation and give appropriate treatment to avoid misdiagnosis and unnecessary overtreatment.

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Section: Resultsmentioning

confidence: 99%

“…WD is first described by Kinnear Wilson ( 18 ). Patients have variable clinical manifestations and laboratory test results, resulting in diagnostic dilemmas ( 17 ). The ophthalmological manifestations of WD include the typical K-F ring and an infrequent sign of sunflower cataract.…”

Section: Resultsmentioning

confidence: 99%

Acute-Onset Visual Impairment in Wilson's Disease: A Case Report and Literature Review

Zheng

Sun

et al. 2022

Front. Neurol.

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“…This limit depends on the level of sensitivity. The inspection also requires a particular copper-free container made of polyethylene and disposable (Dong and Wu, 2021). Because it is challenging to diagnose Wilson's disease, in 2001, Ferensi and her friends proposed to use a scoring system.…”

Section: Diagnosismentioning

confidence: 99%

Wilson’s Disease: A Review

Vidyani¹,

Retnaningtyas²,

Kholili³

et al. 2023

CIMRJ

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Wilson’s disease is a disease that results from a genetic disorder that causes copper accumulation. Wilson’s disease has presented challenges for physicians during the last century, but it can be diagnosed and treated over time. Diagnosing Wilson’s disease is challenging for doctors because of its wide range of clinical manifestations and complexity. Studies that can help diagnose Wilson’s disease include a 24-hour copper urine examination and neurological tests, such as a CT scan or MRI, and liver function tests. There is also a scoring system to help medical personnel diagnose this disease. Correct diagnosis and adequate therapy can be provided, such as penicillamine, trientine, zinc, and, most rarely, liver transplantation. It is also necessary to monitor the side effects of treatment and its effectiveness of treatment. When receiving therapy, Wilson’s disease has a better prognosis than if it is not treated.

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“…ATP7B dysfunction may lead to excessive copper depositions in different organs, causing complicated clinical heterogeneities. Clinical expressions of WD patients are variable, including typical hepatic, neurological or ophthalmological aspects 4 , and atypical extrahepatic manifestations, such as osteoarthritis 5 and renal abnormalities 6 . WD diagnosis is relatively easy to be established in the affected individual with the former manifestations.…”

Section: Introductionmentioning

confidence: 99%

The Retrospective Evaluation Of Endocrine Manifestations In Chinese Patients With Wilson’s Disease

Zhang

Zheng

Shi³

et al. 2022

Preprint

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Purpose: The endocrine manifestations of Wilson’s disease (WD) tended to be ignored, especially as initial clinical aspects. Currently there was a paucity of studies for endocrine involvement in WD patients. We aim to explore the explicit impact of WD on the endocrine system, to reduce the misdiagnosis.Methods: A retrospective study was performed in 37 female patients with WD. They were recruited from the Second Affiliated Hospital of Zhejiang University School of Medicine from October 2018 to October 2020. Each patient was diagnosed with WD according to clinical evaluation and genetic test. Their menstrual, pregnancy and childbirth history, and sex hormone levels were collected and analyzed.Results: The average age of menarche was 13.7 ± 2.0 years. The proportion of delayed menarche was 37.8%. The patients with irregular menstruation after menarche accounted for 50%. Among 65 conceptions of 37 WD patients, the spontaneous abortion, induced abortion, preterm birth, and full-term delivery rate was 46.2%, 27.7%, 12.3% and 13.8% respectively. The abnormal hormone levels of the 35 cases mainly consisted of 14 cases (40%) with increased PRL, 10 cases with decreased P (28.6%), 8 cases (22.9%) with increased SHBG and 6 cases (17.1%) with increased T.Conclusion: The endocrinologic manifestations among WD patients could be not uncommon. WD patients could manifest as irregular menstruation, recurrent abortion, and even infertility. These minor aspects as a presenting feature of WD are prone to be neglected. Therefore, WD should be encountered in the differential diagnosis of endocrine system dysfunction.

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Challenges and suggestions for precise diagnosis and treatment of Wilson’s disease

Cited by 13 publications

References 16 publications

Acute-Onset Visual Impairment in Wilson's Disease: A Case Report and Literature Review

Acute-Onset Visual Impairment in Wilson's Disease: A Case Report and Literature Review

Wilson’s Disease: A Review

The Retrospective Evaluation Of Endocrine Manifestations In Chinese Patients With Wilson’s Disease

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