Wilson disease and the differential diagnosis of its hepatic manifestations: a narrative review of clinical, laboratory, and liver histological features

Schroeder, Shannon; Matsukuma, Karen; Medici, Valentina

doi:10.21037/atm-21-2264

Cited by 21 publications

(20 citation statements)

References 114 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The morphology and structure of hepatic lobules in the control group were normal ( Figure 3 A). The hepatocytes in the WD group ( Figure 3 B) showed inflammatory cell infiltration (light-blue arrow), extensive steatosis (green arrow), and the anisonucleosis of hepatocytes (black arrow), these two latter features being prominent in WD [ 23 ]. It is noteworthy that inflammation and anisonucleosis are related to the oxidative processes [ 24 ] that may be induced by liver copper overload.…”

Section: Resultsmentioning

confidence: 99%

The Specific Copper(II) Chelator TDMQ20 Is Efficient for the Treatment of Wilson’s Disease in Mice

Zhu,

Tang,

Huang

et al. 2023

Pharmaceutics

View full text Add to dashboard Cite

(1) Background: In patients with Wilson’s disease, the deficiency of the copper carrier ATP7B causes the accumulation of copper in the liver, brain and various other organs. Lifelong treatment is therefore mandatory, using copper chelators to increase the excretion of copper and to avoid life-threatening damage. The clinically used reference drug, D-penicillamine, exhibit numerous adverse effects, especially a frequent severe and irreversible neurological worsening, mainly due to its lack of metal selectivity; (2) Methods: A new tetradentate ligand based on an 8-aminoquinoline entity, named TDMQ20, which is highly selective for copper compared with other metal ions, is evaluated in “toxic milk” TX mice as an oral treatment of this Wilson’s disease murine model; (3) Results: The concentration of copper in the liver of “toxic milk” TX mice decreased and the fecal excretion of copper increased upon oral treatment with TDMQ20. Both effects are dose-dependent, and more pronounced than those of D-penicillamine; (4) Conclusions: The TDMQ20 copper chelator is more efficient than the reference drug D-penicillamine for the treatment of a Wilson’s disease murine model. Pharmacological data obtained with TDMQ20 on the TX mouse model strongly support the selection of this ligand as a drug candidate for this genetic disease.

show abstract

Section: Resultsmentioning

confidence: 99%

The Specific Copper(II) Chelator TDMQ20 Is Efficient for the Treatment of Wilson’s Disease in Mice

Zhu,

Tang,

Huang

et al. 2023

Pharmaceutics

View full text Add to dashboard Cite

show abstract

“…Hepatic malignancy, including HCC and IHCC, is common in patients with liver disease, regardless of whether they have cirrhosis [ 9 ]. Although chronic liver damage is a potential risk factor for primary liver cancer, it appears to be rare in WD, accounting for approximately 1.2% of cases [ 1 ].…”

Section: Discussionmentioning

confidence: 99%

Intrahepatic Cholangiocarcinoma in Wilson’s Disease: A Case Report

Jang,

Kang,

Kim

2023

Am J Case Rep

View full text Add to dashboard Cite

Patient: Female, 39-year-old Final Diagnosis: Intrahepatic cholangiocarcinoma Symptoms: Non Clinical Procedure: — Specialty: Oncology • Surgery Objective: Rare disease Background: Wilson’s disease is a rare autosomal recessive disorder characterized by excessive accumulation of copper in the liver, brain, and kidneys. Although it affects only approximately 1 in 30 000 individuals, it leads to progressive liver damage and neurological issue. Wilson’s disease presents a wide spectrum of clinical manifestations related to hepatic disease, ranging from asymptomatic cases to acute liver failure. The occurrence of hepatobiliary malignancies, including intrahepatic cholangiocarcinoma, is relatively uncommon in Wilson’s disease, even among patients with cirrhosis. Only 14 cases have been published so far, including the present report, and its etiology remains unclear. Case Report: We report the successful treatment of intrahepatic cholangiocarcinoma in a 39-year-old woman with Wilson’s disease. Twenty-two years after being diagnosed with Wilson’s disease, intrahepatic cholangiocarcinoma was diagnosed. She had an intrahepatic mass that was found to be a 4.3-cm ill-defined hypodense lesion in liver segment 3/4, with features suggesting infiltrative intrahepatic cholangiocarcinoma rather than hepatocellular carcinoma. Laboratory results showed slightly elevated liver enzymes and tumor markers. There was no evidence of metastasis on chest computed tomography or positron emission tomography, and the tumor was resectable, so surgery was the first-choice treatment option. Left hepatectomy was performed successfully, and the final pathology confirmed adenocarcinoma with clear resection margins. The patient received adjuvant chemotherapy with capecitabine. To date, the patient has been doing well without evidence of recurrence or metastasis. Conclusions: Despite limited knowledge regarding hepatic malignancy in Wilson’s disease, it is crucial to prioritize careful monitoring and develop suitable treatment strategies upon diagnosis to achieve favorable outcomes, considering the potential occurrence of intrahepatic cholangiocarcinoma in Wilson’s disease.

show abstract

“…La formación de anillos ocurre por la deposición de cobre sobre la membrana de descenso en la córnea. 10 Los anillos KF generalmente se usan para identificar si existe un deterioro neurológico evidente por la manifestación de la EW, el examen para la identificación de los anillos KF generalmente se realiza con una lámpara de hendidura y es necesario identificar las primeras etapas de la enfermedad cuando todavía hay poca acumulación de CU en la córnea, con el tratamiento adecuado, se puede notar la desaparición de los anillos KF. Los anillos KF no solo son característicos de la enfermedad de Wilson, sino que también se observan en otros trastornos, como la colestasis neonatal.…”

Section: Anillos De Kayser Fleischerunclassified

“…11 La formación de anillos ocurre por depósito de cobre en la membrana descendente de la córnea. 10 Una variante diferente de acumulación de cobre en la membrana de Descemet del ojo se llama catarata de girasol, una característica que se encuentra con menos frecuencia en pacientes con enfermedad de Wilson y que no se considera un hallazgo patognomónico de la enfermedad. 14 Imagen 01 -Ojos con Anillos de Kayser-Fleischer, cortesía Atanu Chandra y Moni S., disponible en https://www.nejm.org/doi/full/10.1056/NEJMicm2103029…”

Section: Anillos De Kayser Fleischerunclassified

“…El nivel sérico de ceruloplasmina, como un valor inferior a 20 ml/dl, puede ser un gran indicador de la enfermedad de Wilson, ya que la proteína plasmática de unión al cobre con más del 90% del cobre unido a la enfermedad. 10 Un diagnóstico positivo para la enfermedad de Wilson generalmente se da mediante el siguiente conjunto de pruebas: un nivel bajo de ceruloplasmina sérica, presencia de los anillos de Kayser Fleischer que se identifican mejor mediante una prueba con lámpara de hendidura, un dispositivo portátil y un análisis de orina de 24 horas para determinar si se Epicentro Ciencias Salud (julio-diciembre 2022): Año 2; Vol.2; N.º 4; ISSN-L 2789-7818 obtienen los niveles de cobre excretados, en casos dudosos se puede ordenar una biopsia hepática.27…”

Section: Manifestaciones Neurológicasunclassified

See 1 more Smart Citation

Anillos de Kayser-Fleischer y la Enfermedad de Wilson, una revisión de literatura

Nogueira

Duarte

2023

Epicentro Ciencias Salud

View full text Add to dashboard Cite

La enfermedad de Wilson, también llamada degeneración hepatolenticular, es una enfermedad autosómica recesiva que afecta tanto a hombres como a mujeres, actuando como una deficiencia en el metabolismo del cobre. Las personas con esta enfermedad pueden presentar manifestaciones neurológicas, hepáticas, oculares, entre otras. Una de las características presentes en las personas que tienen comprometido el sistema nervioso central son los anillos de Kayser-Fleischer que se manifiestan en los ojos que son anillos de cobre que se acumulan en la membrana de Descemet del globo ocular, formando anillos de color verde parduzco en su costado. La enfermedad de Wilson es el resultado de una alteración genética, lo que lleva a que el cobre no sea metabolizado y, en consecuencia, lo deje suelto en el torrente sanguíneo, acumulándose típicamente en el hígado y los ganglios basales. Esta revisión bibliográfica tiene como objetivo revisar puntos importantes de la enfermedad de Wilson y verificar si los anillos de Kayser-Fleischer son un punto intrínseco en el diagnóstico de esta, facilitando su detección precoz y, consecuentemente el tratamiento. A partir de este análisis se concluye que los anillos de Kayser-Fleischer no son específicos para la enfermedad de Wilson, sin embargo, son diferenciables frente a dicha enfermedad, porque son menos densas y tienen un color más tostado que marrón. Palabras clave: Enfermedad de Wilson, anillos de Kayser Fleischer, Diagnóstico. Abstract Wilson's disease, also called hepatolenticular degeneration, is an autosomal recessive disease that affects both men and women, acting as a deficiency in copper metabolism. People with this disease may present neurological, hepatic, and ocular manifestations, among others. One of the characteristics present in people who have a compromised central nervous system are the Kayser-Fleischer rings, which are copper rings that accumulate in the Descemet’s membrane of the eye, forming brownish-green rings on its side. Wilson's disease is the result of a genetic alteration, which leads to copper not being metabolized and consequently leaving it loose in the bloodstream, typically accumulating in the liver and basal ganglia. This bibliographic review aims to review important points of Wilson's disease and verify if Kayser-Fleischer rings are an intrinsic point in the diagnosis of Wilson's disease and thus facilitate early diagnosis and consequently treatment. To carry out the bibliographic review, a systematic investigation was carried out, using the research sources mentioned below. To present novelties in the area of Wilson's disease diagnosis, and consequently advance treatment and early diagnosis for a duly effective treatment, Kayser-Fleischer rings are not specific for Wilson's disease, however they are differentiable against this disease, because they are less dense and have a tanner color than brown. Keywords: Wilson´s Disease, Kayser-Fleischer Rings, Diagnosis.

show abstract

Wilson disease and the differential diagnosis of its hepatic manifestations: a narrative review of clinical, laboratory, and liver histological features

Cited by 21 publications

References 114 publications

The Specific Copper(II) Chelator TDMQ20 Is Efficient for the Treatment of Wilson’s Disease in Mice

The Specific Copper(II) Chelator TDMQ20 Is Efficient for the Treatment of Wilson’s Disease in Mice

Intrahepatic Cholangiocarcinoma in Wilson’s Disease: A Case Report

Anillos de Kayser-Fleischer y la Enfermedad de Wilson, una revisión de literatura

Contact Info

Product

Resources

About