Published online Jan 26, 2025. doi: 10.12998/wjcc.v13.i3.99558
Revised: October 9, 2024
Accepted: October 29, 2024
Published online: January 26, 2025
Processing time: 110 Days and 5.4 Hours
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 expec
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, emp
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.