Wilson's Disease: Laboratory Evaluation of A Sample of Patients Attending Baghdad Teaching Hospital


ABSTRACT:BACKGROUND: Wilson’s disease (WD) is an inherited defect in copper metabolism that causes accumulation of copper in various body organs. It is a treatable; if it is diagnosed promptly and treated consistently. OBJECTIVE:Laboratory; hematological, biochemical, and diagnostic evaluation of a sample of Iraqi patients with WD, and study any association between clinical presentations and studied variables.METHODS: A case series study was conducted during 2011, from the 1st of February till the 10th of June. Sampling method was a convenient non-random one, through consecutive pooling of registered WD patients. A questionnaire-form paper had been developed for data collection, and required investigations were done in qualified laboratories.RESULTS: The study had enrolled 29 patients, with a male to female ratio of (1.07:1), The mean hemoglobin level was 10.64±2.53g/dl. Hemolysis was presented in 27.6% of patients, normochromic-normocytic RBCs in blood film were seen in 3.4% patient, platelet count was 243.97±89.35ccX109/L, WBC count was 5.70±2.84ccX109/L. ESR was 24.98±17.16mm/hr., serum bilirubin was 6.17±5.18mg/dl, serum cholesterol was 146.21±44.93mg/dl, serum triglycerides was 95.34±52.23mg/dl. Total serum protein was 72.86±11.15g/L, serum Albumin 39.17±7.88g/L and serum Globulin 31.07±7.89g/L. Penicillamine challenge test was positive in 96.6% patients. Serum ceruloplasmin level was 123.38±48.48mg/L, total serum copper was 72.48±25.11µg/dl, and 24h urinary copper excretion was 174.97±109.58µg/24hr.CONCLUSION: Most patients with WD are; anemic, with low serum levels of copper and cerulloplasmin, positive penicillamine challenge test, with abnormal liver function tests. With detected hemolysis in some of them; though no statistical difference or association was approved regarding laboratory values among patients with different presentations