Carrera E, Alvarado J, Astudillo M, Pillajo G. Wilson's disease in two siblings from Ecuador: Two case reports. World J Clin Cases 2025; 13(3): 99558 [DOI: 10.12998/wjcc.v13.i3.99558]
Corresponding Author of This Article
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
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
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
Abstract
BACKGROUND
Wilson's disease (WD) is a rare metabolic disorder of copper accumulation in organs such as liver, brain, and cornea. Diagnoses and treatments are challenging in settings, where advanced diagnostic tests are unavailable, copper chelating agents are frequently scarce, healthcare professionals lack disease awareness, and medical follow-ups are limited. Prompt diagnoses and treatments help prevent complications, improve patients’ quality of life, and ensure a normal life expectancy. The clinical presentations and outcomes of WD can vary within a single family.
CASE SUMMARY
We present the cases of two siblings (19 and 27 years) from a consanguineous family in rural Ecuador, diagnosed as having WD during a family screening. The male patient, diagnosed at age 19 after his brother’s death from acute liver failure, presented with compensated cirrhosis, neurological symptoms, and bilateral Kayser-Fleischer rings. He developed progressive neurological deterioration during an irregular treatment with D-penicillamine due to medication shortages. His condition improved upon switching to trientine tetrahydrochloride, and his neurological symptoms improved over an 8-year period of follow-ups. The female patient, diagnosed at age 10, exhibited only biochemical alterations. Her treatment history was similar; however, she remained asymptomatic without disease progression over the same follow-up period. We discuss the potential influence of epigenetic mechanisms and modifier genes on the various phenotypes, emphasizing the need for research in these areas to optimize therapeutic strategies.
CONCLUSION
Our patients’ medical histories show how early diagnosis and treatment can prevent disease progression; and, how suboptimal treatments impact disease outcomes.
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.
