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

Schilsky, Michael L.; Roberts, Eve A.; Bronstein, Jeff M.; Dhawan, Anil; Hamilton, James P.; Rivard, Anne Marie; Washington, Mary Kay; Weiss, Karl Heinz; Zimbrean, Paula C.

doi:10.1002/hep.32801

Cited by 41 publications

(138 citation statements)

References 401 publications

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“…In this study, considering that WD is a hereditary disease with early hepatocellular steatosis during children and adolescence, we included WD patients under 18 years of age, analyzed their pathological changes in the liver and demonstrated that ATT is a better non-invasive tool for the evaluation of liver involvement. There is a limitation that WD Patients were increasingly diagnosed in children who are less than 3 years-old [10], the minimum age of the subjects in this study was 5 years old, and younger children were not included. Maybe it's a reason that age existed the significant difference among the three groups in our study.…”

Section: Discussionmentioning

confidence: 99%

“…As reported, in pediatric patients with WD, the optimal threshold of liver stiffness for liver fibrosis is 8.30 Kpa by TE [8] and 8.50 Kpa by 2D-SWE [7]. However, previous studies have focused mainly on the stages of liver fibrosis and liver cirrhosis in patients with WD, and have rarely paid attention to noninvasive evaluations of hepatocellular steatosis, which is the most common early pathological change for WD in children and adolescents [9,10].…”

Section: Introductionmentioning

confidence: 99%

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Application of attenuation coefficient in the assessment of hepatic involvement in children and adolescents with Wilson’s disease

Wang

et al. 2023

BMC Med Imaging

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Background To investigate whether the attenuation coefficient (ATT) can be used as a noninvasive index to assess liver involvement in children and adolescents with Wilson’s disease (WD). Methods Children and adolescents diagnosed with WD were retrospectively collected from the First Affiliated Hospital of the Anhui University of Traditional Chinese Medicine between May 2022 and August 2022. The findings on ATT, Shear Wave Measurement (SWM), AST to platelet ratio index (APRI), and fibrosis 4 (FIB-4) score were obtained. The liver involvement of WD was classified into 3 groups based on serum levels of collagen type IV (CIV), hyaluronic acid (HA), laminin (LN) and precollagen type III N-terminal peptide (PIIINP): (1) Group1 (n = 25), no abnormalities in CIV, HA, LN and PIIINP; (2) Group2 (n = 19), elevation of 1 or 2 indexes in CIV, HA, LN, and PIIINP; Group3 (n = 18), elevation of 3 or 4 indicators in CIV, HA, LN, and PIIINP. The levels of ATT, SWM, APRI and FIB-4 were compared between the 3 groups; and correlation of ATT with SWM and triglyceride (TG) was performed using Spearman's correlation analysis. The Receiver operating characteristic (ROC) curve was used to analyze the diagnostic efficacy of ATT alone and its combination with SWM, APRI, and FIB-4 in children and adolescents with WD. Results A total of 62 children and adolescents with WD were retrospectively retrieved. ATT levels were significantly different in intergroup comparisons (P < 0.001). The ROC curve showed that the area under the curve (AUC) for the diagnosis of hepatic steatosis using ATT was 0.714, 0.712 and 0.867 in Group 1 versus Group 2, Group 2 versus Group 3, and Group 1 versus Group 3, respectively; the sensitivity for the diagnosis of hepatic steatosis in Group 1 versus Group 2 was 89.47% with the cutoff value of ATT of 0.73 dB/cm/MHz. No significant correlation found between ATT and TG (ρ = 0.154, P = 0.231). Compared to ATT alone, the combination of ATT with APRI and FIB-4 or the combination of ATT with SWM, APRI, and FIB-4 showed a better diagnostic efficacy in Group 1 versus Group 2 (both P = 0.038). Conclusion ATT could be used as a non-invasive index for the evaluation of liver steatosis in children and adolescents with WD, with a good clinical applicative value. Furthermore, ATT in combination with APRI, FIB-4, and SWM might have better diagnostic efficacy than ATT alone.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Application of attenuation coefficient in the assessment of hepatic involvement in children and adolescents with Wilson’s disease

Wang

et al. 2023

BMC Med Imaging

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“…Genetic analysis of ATP7B mutation was done in 10 patients. 12 The Leipzig scoring system was used to confirm further the diagnosis of WD in patients in whom genetic analysis was done. A score of >4 was considered diagnostic of WD, whereas those between 2 and 3 had probable WD.…”

Section: Methodsmentioning

confidence: 99%

“…Patients with absent KF rings who present with low ceruloplasmin and abnormal liver tests should be considered for liver biopsy. 12 …”

Section: Introductionmentioning

confidence: 99%

Presence of pseudo-Kayser-Fleischer rings in patients without Wilson disease: a prospective cohort study

Sabhapandit

Sharma²,

Kulkarni³

et al. 2023

Hepatology Communications

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Background and Aims: Kayser-Fleischer (KF) rings are due to copper deposition in Descemet membrane of the cornea in Wilson disease. Pseudo-KF ring (PKF), seen in patients with high bilirubin, is often misinterpreted as KF rings. These are bilirubin deposits in posterior corneal stroma. The aim of the study was to prospectively evaluate the presence of KF and PKF rings in Wilson disease and non-Wilsonian liver disease with serum bilirubin >5 mg/dL. Methods: All patients referred from the hepatology unit with serum bilirubin >5 mg/dL were assessed by slit-lamp examination (SLE) and anterior segment optical coherence tomography at baseline, 3 months, and 6 months for differences in corneal deposits between KF and PKF rings. All other clinical, laboratory, radiological, genetic, and tissue diagnoses by liver biopsy were done as required to confirm the cause of liver disease. Results: Among the 750 patients examined, corneal deposits were present in 13%, KF rings as granular deposits in 31.7%, and PKF as a posterior stromal hue in 68.3% of cases. PKF rings showed regression in 60%, disappearance in 36.6% at 3 months, and in 100% of cases at 6 months. KF ring showed regression in 10.7% and 8.3% until 6 months. Anterior segment optical coherence tomography identified KF ring as a hyperintense line on Descemet membrane in an additional 9.7% of patients compared with a scattered hyperintense hue in PKF rings. Conclusions: The presence of PKF rings in patients with jaundice is not uncommon and should be differentiated from true KF rings. Serial monitoring is essential to look for resolution, and anterior segment optical coherence tomography may be additionally helpful.

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“…Morbus Wilson ist eine seltene, autosomal-rezessiv vererbte Kupferspeicher-Erkrankung. Patienten mit einem Morbus Wilson können sehr diverse hepatische und neuropsychiatrische Symptome entwickeln [1,2]. Nach Symptommanifestation wird der Morbus Wilson aufgrund der Seltenheit und klinischen Variabilität oft erst verzögert diagnostiziert.…”

Section: Morbus Wilsonunclassified

Hereditäre Lebererkrankungen: Morbus Wilson und Hämochromatose

Merle¹,

Mohr²

2023

Dtsch Med Wochenschr

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Morbus Wilson und die HFE-assoziierte Hämochromatose sind autosomal-rezessiv vererbte Stoffwechselkrankheiten der Leber. Die Kenntnis der Symptomatik und Diagnostik ist wichtig, um diese Erkrankungen möglichst früh erkennen und behandeln zu können. Bei der Hämochromatose kann die frühzeitige Diagnose Endorganschädigungen verhindern. Insbesondere Morbus Wilson wird aufgrund seines breiten Symptomspektrums häufig spät erkannt.Bibliografie

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

Cited by 41 publications

References 401 publications

Application of attenuation coefficient in the assessment of hepatic involvement in children and adolescents with Wilson’s disease

Application of attenuation coefficient in the assessment of hepatic involvement in children and adolescents with Wilson’s disease

Presence of pseudo-Kayser-Fleischer rings in patients without Wilson disease: a prospective cohort study

Hereditäre Lebererkrankungen: Morbus Wilson und Hämochromatose

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