Beneath the Copper—Pediatric Wilson's Disease Cirrhosis and Hepatocellular Carcinoma: A Case Report with Literature Review

Rosencrantz, Richard; LeCompte, L.; Yusuf, Yasmin

doi:10.1055/s-0035-1567828

Cited by 13 publications

(5 citation statements)

References 30 publications

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“…HCC occurrence has been reported both in cirrhotic [ 25 , 26 ] and non-cirrhotic WD patients [ 27 ]. Furthermore, some reports highlight the need for consideration of liver cancer development, even in young patients with WD [ 28 ]. Moreover, the American and European Association for the Study of Liver Diseases (AASL and EASL) recommend HCC screening in patients with liver cirrhosis regardless of etiology [ 29 , 30 ].…”

Section: Clinical Presentation Of Wilson’s Diseasementioning

confidence: 99%

Wilson’s Disease: An Update on the Diagnostic Workup and Management

Kasztelan-Szczerbińska

Cichoż‐Lach

2021

JCM

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Wilson’s disease (WD) is a rare autosomal recessive disorder of hepatocellular copper deposition. The diagnostic approach to patients with WD may be challenging and is based on a complex set of clinical findings that derive from patient history, physical examination, as well as laboratory and imaging testing. No single examination can unequivocally confirm or exclude the disease. Timely identification of signs and symptoms using novel biomarkers and modern diagnostic tools may help to reduce treatment delays and improve patient prognosis. The proper way of approaching WD management includes, firstly, early diagnosis and prompt treatment introduction; secondly, careful and lifelong monitoring of patient compliance and strict adherence to the treatment; and, last but not least, screening for adverse effects and evaluation of treatment efficacy. Liver transplantation is performed in about 5% of WD patients who present with acute liver failure at first disease presentation or with signs of decompensation in the course of liver cirrhosis. Increasing awareness of this rare inherited disease among health professionals, emphasizing their training to consider early signs and symptoms of the illness, and strict monitoring are vital strategies for the patient safety and efficacy of WD therapy.

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Section: Clinical Presentation Of Wilson’s Diseasementioning

confidence: 99%

Wilson’s Disease: An Update on the Diagnostic Workup and Management

Kasztelan-Szczerbińska

Cichoż‐Lach

2021

JCM

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“…Hepatic cancer complicating WD may occur in the pediatric age-bracket. [74] Screening and surveillance for HCC is recommended for patients with WD and cirrhosis or regressed cirrhosis and not for patients with noncirrhotic WD. Treatment of liver cancer in WD should follow standard guidelines for treatment of HCC and CCA.…”

Section: Liver Cancer In Wdmentioning

confidence: 99%

“…Therefore, in WD, unless an apparent liver tumor meets strict radiologic criteria for HCC and cirrhosis is present, the tumor should be evaluated by biopsy. Hepatic cancer complicating WD may occur in the pediatric age‐bracket 74…”

Section: Treatment In Specific Clinical Situationsmentioning

confidence: 99%

A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases

et al. 2022

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This is the complete version of the American Association for the Study of Liver Diseases (AASLD) 2022 Guidance on Wilson disease (WD). It provides a contemporary approach to diagnosis and management of WD. Guidance documents, developed by a panel of experts, are formulated as recommendations to help clinicians implement the most current strategies for diagnosis and management. This Guidance was developed with the support and oversight of the AASLD Practice Guidelines Committee. The AASLD Practice Guidelines Committee chose to commission a guidance, rather than a guideline, because of the paucity of randomized controlled trials on this topic. AASLD Guidelines are supported by systematic reviews of the literature, formal ratings of evidence quality and strength of recommendations, and, if appropriate, meta-analysis of results using the Grading of Recommendations Assessment Development and Evaluation system. In contrast, this narrative review and its guidance statements are based on (1) formal review and analysis of the recently published international literature on WD, (2) guideline policies of the AASLD, and (3) the authors' experience. This practice Guidance is intended for use by physicians and other health professionals. As clinically appropriate, guidance statements should be tailored to the needs of individual patients. Specific guidance statements are evidence based whenever possible. Where such evidence is unavailable or inconsistent, guidance statements are based on expert consensus opinion. An executive summary providing a convenient overview is available (

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“…WD patients can present with liver symptoms, including persistently elevated levels of serum aminotransferases, hepatitis, cirrhosis, and a higher risk of developing HCC [28,29]. Indeed, even young WD patients are more likely to develop hepatic malignancies than individuals without the disease [30]. However, patients receiving appropriate treatment have a better longterm clinical outcome [31]; thus, early diagnosis and treatment are key to the successful management of patients with WD.…”

Section: Wd and Disorders Associated With Excessive Copper Accumulationmentioning

confidence: 99%

The mechanism of copper homeostasis and its role in disease

Liang

Chen

et al. 2023

iLABMED

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Copper (Cuprum) is an essential trace metal indispensable for the function of numerous enzymatic molecules implicated in cellular metabolism. Emerging evidence has demonstrated the role of copper in angiogenesis and cellular signaling. Moreover, raised copper levels have been detected in hepatocellular carcinoma and other cancers. An inherited or acquired copper imbalance, including inadequately low or excessively high copper levels, as well as inappropriate copper distribution in the body, is implicated in a number of diseases. In addition, a recent groundbreaking study identified a copper‐induced type of programmed cell death named cuprotosis, the mechanism of which greatly deferred from that of other known cell death modes. The first part provides an overview of the regulation of copper homeostasis and discusses the underlying mechanisms of cuprotosis. In the second part, the authors focus on the functions of copper in liver diseases and other metabolic disorders, before discussing how this knowledge could contribute to the development of effective targets to treat such diseases.

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Beneath the Copper—Pediatric Wilson's Disease Cirrhosis and Hepatocellular Carcinoma: A Case Report with Literature Review

Cited by 13 publications

References 30 publications

Wilson’s Disease: An Update on the Diagnostic Workup and Management

Wilson’s Disease: An Update on the Diagnostic Workup and Management

A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases

The mechanism of copper homeostasis and its role in disease

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