Case Report
Copyright ©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 26, 2025; 13(3): 99558
Published online Jan 26, 2025. doi: 10.12998/wjcc.v13.i3.99558
Wilson's disease in two siblings from Ecuador: Two case reports
Enrique Carrera, Jonathan Alvarado, Martina Astudillo, Galo Pillajo
Enrique Carrera, Department of Gastroenterology and Hepatology, Hospital de Especialidades Eugenio Espejo, Quito 170136, Pichincha, Ecuador
Jonathan Alvarado, Martina Astudillo, Faculty of Medicine, Pontificia Universidad Catolica del Ecuador, Quito 170143, Pichincha, Ecuador
Galo Pillajo, Department of Radiology, Hospital de Especialidades Eugenio Espejo, Quito 170136, Pichincha, Ecuador
Author contributions: Carrera E, Alvarado J, Astudillo M and Pillajo G performed the conceptualization, formal analysis, investigation and validation of the study as well as obtaining funding acquisition and resources for the project; Alvarado J, Astudillo M and Carrera E were in charge of data curation, methodology, and supervision of the investigation; Carrera E administered the project; Alvarado J, Astudillo M and Pillajo G contributed to software management and visualization of the data; all authors contributed to writing, reviewing and editing the original draft; all authors have read and approved the final manuscript.
Informed consent statement: Written informed consent was obtained from all the participants prior to study enrollment for the publication of this report and any accompanying images.
Conflict-of-interest statement: Dr. Carrera has nothing to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Enrique Carrera, MD, Assistant Professor, Department of Gastroenterology and Hepatology, Hospital de Especialidades Eugenio Espejo, Gran Colombia Avenue and Yaguachi Street, Quito 170136, Pichincha, Ecuador. carreraestupinan.enrique@gmail.com
Received: July 25, 2024
Revised: October 9, 2024
Accepted: October 29, 2024
Published online: January 26, 2025
Processing time: 110 Days and 5.4 Hours
Core Tip

Core Tip: Diagnosing and treating Wilson disease (WD) is particularly challenging in developing countries due to limited resources. This case study of two siblings from Ecuador demonstrates why early diagnoses and consistent treatments are crucial. The male sibling showed severe symptoms, whereas an early intervention kept the female sibling asymptomatic. Switching from D-penicillamine to trientine tetrahydrochloride improved their condition. Our cases report emphasizes the need for an effective healthcare infrastructure and WD awareness to manage the condition under resource-limited settings, and our findings suggest that genetic and environmental factors contribute to the disease's variability.