Prevalence of Wilson’s disease in Kashmiri population: A tertiary care hospital-based assessment

Background/Problem considered: The clinical symptoms and biochemical data are the most important factors in determining the diagnosis of Wilson's disease (WD). To reduce morbidity and mortality, it is required to establish the diagnosis effectively for its management. Therefore, the study aimed to determine the prevalence of WD and to measure copper and ceruloplasmin levels in the patients visiting Sher-i-Kashmir Institute of Medical Sciences, Srinagar (SKIMS). Methods: It was a hospital-based observational descriptive study that lasted 5- years and involved a total of 1924 patients. Those subjects who visited the SKIMS (both in and out patient departments) with suspected Wilson's illness were included in the study. Results: Out of 1924, males showed predominantly higher presentation than females (57.9% vs 42.1%). Out of 17 (0.8%) subjects initially suspected of having Wilsons’s disease, only 02 subjects were actually positive for WD, and remaining 15 subjects others were diagnosed with other illnesses. The overall median serum levels of copper and ceruloplasmin were 111ug/dl and 37 mg/dl respectively. However, the subjects with confirmed WD included 01 male and 01 female., Moreover these 02 patients diagnosed with WD, had serum ceruloplasmin levels as 13 and 10 mg/dl. The female subject was having positive history of WD, as her sibling had already died from this disease. Conclusion: Serum copper and ceruloplasmin are still a better tool for diagnosis of the WD.