Wilson's disease: laboratory evaluation of a sample of patients attending Baghdad teaching hospital

ABSTRACT

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. Laboratory; hematological, biochemical, and diagnostic evaluation of a sample of Iraqi patients with WD, and study any association between clinical presentations and studied variables. A case series study was conducted during 2011, from the 1[st] of February till the 10[th] 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. The study had enrolled 29 patients, with a male to female ratio of [1.071], 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 +/- 89.35ccX10[9]/L, WBC count was 5.70 +/- 2.84ccX10[9]/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 +/- 25.11 micro g/dl, and 24h urinary copper excretion was 174.97 +/- 109.58 micro g/24hr. 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