Grażyna Gromadzka1, Diana Wierzbicka2, Tomasz Litwin2, Adam Przybyłkowski3. 1. Cardinal Stefan Wyszyński University, Faculty of Medical Science, Collegium Medicum, Warsaw, Poland. 2. Institute of Psychiatry and Neurology, Second Department of Neurology, Warsaw, Poland. 3. Medical University in Warsaw, Department of Gastroenterology and Internal Medicine, Warsaw, Poland. Electronic address: aprzybylkowski@wum.edu.pl.
Abstract
BACKGROUND/AIM: Wilson's disease (WD) is a hereditary disorder characterized by abnormal metabolism of copper. For unknown reasons, the clinical picture of this disease appears to be sex-dependent. Because the metabolism of copper and iron is interrelated, we aimed to evaluate whether the variability in the clinical picture of WD could be explained by the sex difference in iron metabolism. METHODS: A total of 138 WD patients were examined in this study: 39 newly diagnosed, treatment naive patients and 99 individuals already treated with decoppering drugs. The serum concentration of ceruloplasmin (Cp) and copper were measured using an enzymatic colorimetric assay and by atomic absorption spectroscopy, respectively. The parameters of iron metabolism were determined by using standard laboratory methods and enzyme immunoassays. RESULTS: In the treatment naive group men had a higher median serum concentration of ferritin (290.5 vs. 81.0 ng/mL, p < 10-4), and hepcidin (Hepc) (55.4 vs. 22.8 ng/mL, p < 10-3) compared to women, and tended to have higher concentration of iron, hemoglobin (HGB) and number of red blood cells (RBC). In the treated group men had higher median ferritin (122.0 vs. 46.0 ng/mL, p < 10-4), Hepc (23.5 vs. 10.8 ng/mL, p < 10-4), iron (102.5 vs. 68.0 μg/dL, p < 10-4), HGB (15.0 vs. 13.2 g/dL, p < 10-4), and RBC (5.0 vs. 4.5 M/L, p < 10-4) than women. CONCLUSION: Iron metabolism differs between men and women with WD, which may partly explain the sex difference noted in the disease manifestation.
BACKGROUND/AIM: Wilson's disease (WD) is a hereditary disorder characterized by abnormal metabolism of copper. For unknown reasons, the clinical picture of this disease appears to be sex-dependent. Because the metabolism of copper and iron is interrelated, we aimed to evaluate whether the variability in the clinical picture of WD could be explained by the sex difference in iron metabolism. METHODS: A total of 138 WDpatients were examined in this study: 39 newly diagnosed, treatment naive patients and 99 individuals already treated with decoppering drugs. The serum concentration of ceruloplasmin (Cp) and copper were measured using an enzymatic colorimetric assay and by atomic absorption spectroscopy, respectively. The parameters of iron metabolism were determined by using standard laboratory methods and enzyme immunoassays. RESULTS: In the treatment naive group men had a higher median serum concentration of ferritin (290.5 vs. 81.0 ng/mL, p < 10-4), and hepcidin (Hepc) (55.4 vs. 22.8 ng/mL, p < 10-3) compared to women, and tended to have higher concentration of iron, hemoglobin (HGB) and number of red blood cells (RBC). In the treated group men had higher median ferritin (122.0 vs. 46.0 ng/mL, p < 10-4), Hepc (23.5 vs. 10.8 ng/mL, p < 10-4), iron (102.5 vs. 68.0 μg/dL, p < 10-4), HGB (15.0 vs. 13.2 g/dL, p < 10-4), and RBC (5.0 vs. 4.5 M/L, p < 10-4) than women. CONCLUSION:Iron metabolism differs between men and women with WD, which may partly explain the sex difference noted in the disease manifestation.