The basal ganglia in haemochromatosis
D. Berg, U. Hoggenmüller, E. Hofmann, R. Fischer, M. Kraus, M. Scheurlen and G. Becker
Haemochromatosis is characterised by deposition of iron-containing pigment in various organs, but little is known about possible deposition in the brain and its clinical impact. We therefore investigated 14 patients with hereditary haemochromatosis with MRI, CT and transcranial ultrasound (TCS) and examined them neurologically. In six of the patients dense lesions were found within the lentiform nucleus on CT, all of whom displayed hyperechogenic lesions in the same area on TCS, as did one other patient. In these patients the relative signal intensities of the lentiform nucleus measured by MRI relaxometry were higher. No patient had clinical signs of basal ganglia disorders.
Low serum 25-hydroxyvitamin D in hereditary hemochromatosis: relation to iron status.
Chow LH, Frei JV, Hodsman AB, Valberg LS.
Under normal conditions, vitamin D absorbed from the diet or synthesized in the skin is transported to the liver where it undergoes hydroxylation. The purpose of this study was to determine whether excess hepatic iron affects this process and the subsequent production of 1,25-dihydroxyvitamin D (1,25-[OH]2D) in the kidney. Mean serum 25-hydroxyvitamin D (25-OHD) concentrations in untreated hereditary hemochromatosis were 13 +/- 6 (SD) in 9 patients with cirrhosis, 13 +/- 6 in 5 patients with hepatic fibrosis, and 22 +/- 6 in 10 patients with normal hepatic architecture aside from siderosis and were significantly lower than the levels found in 24 controls matched for age, sex, and season, p less than 0.05. The mean serum 25-OHD levels in the two groups with hemochromatosis and hepatic damage were significantly lower than the value in the group with normal hepatic architecture, p less than 0.05. Serum 25-OHD levels in individual patients were inversely related to the size of body iron stores as measured by exchangeable body iron, r = -0.64, or serum ferritin, r = -0.47, p less than 0.05. In 15 patients removal of excess body iron by venesection therapy produced a significant increase in the mean serum 25-OHD from 20 ng/ml to 30 ng/ml, p less than 0.05. In contrast, mean serum 1,25-[OH]2D levels were similar in iron-loaded and control subjects, indicating that the regulation of this metabolite was intact in patients with hemochromatosis. The results reveal that the low serum 25-OHD concentration in patients with hemochromatosis is directly related to the extent of iron loading and it is improved by venesection therapy.
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