International Journal For Multidisciplinary Research

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Exploring a Case of Progressive Hepatic Jaundice Undergoing Treatment Failure Later Diagnosed as Wilson Disease: A Case Study

Author(s) Ms. Priyanka Shukla
Country India
Abstract Background: Wilson Disease (WD) is a rare, autosomal recessive metabolic condition, which involves copper build-up, frequently presenting as common liver diseases, which results in a late diagnosis and serious complications.
Purpose: The case study is intended to discuss the diagnosis dilemma and emphasis of early diagnosis of WD in a patient who shows progressive jaundice in the liver that cannot be treated with empirical treatments and is eventually diagnosed with WD.
Methods: The overall review of the clinical presentation, lab results, and treatment outcomes of the patient were reviewed in order to depict the process of diagnosis and difficulties which are inherent to the treatment of WD.
Findings: The case of progressive hepatic jaundice in the patient did not respond to usual therapies and the additional examination revealed typical signs of WD, i.e. liver enzyme rise, low serum ceruloplasmin, and excessive urinary copper excretion. Genetic testing was used to diagnose WD.
Inference: This case study indicates that it is important to consider WD among the differential diagnoses of patients with progressive hepatic jaundice that is not responding to standard therapies. Early diagnosis and treatment of WD would also help in preventing the irreversible damage of the liver and aid patient outcomes. The present report shows that clinicians need to be more alert and aware in order to enable diagnosis and management of the disease in its early stages to be done in time before it becomes devastating as it is a rare disease.
Keywords Wilson disease (WD), Copper accumulation, Ceruloplasmin, Genetic testing, Autoimmune illness
Field Medical / Pharmacy
Published In Volume 8, Issue 1, January-February 2026
Published On 2026-01-13
DOI https://doi.org/10.36948/ijfmr.2026.v08i01.66358
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E-ISSN 2582-2160
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