PO19-WE-13 Autosomal dominant limb-girdle muscular dystrophy linked to chromosome 7Q36: description of a phenotype

Abstract

Background: The haematopoietic effect of recombinant human erythropoietin (rhuEPO) in dialysis patients is well known. Recently rhuEPO has received considerable attention because of the finding that it has also broad neuroprotective and cardioprotective capabilities. Nowadays rhuEPO is tested in clinical trials for various neurological conditions such as stroke, schizophrenia ec. where mostly non-anaemic patients are treated with rhuEPO. In this study we investigated the effects of long-term use of rhuEPO in regard to erythropoesis and iron parameters in a group of non-anaemic patients with Friedreich’s ataxia (FA). Patients and methods: In a clinical study 12 adult patients, suffering from the neurodegenerative diseases Friedreich’s ataxia, received 5.000 units rhuEPO 3 times weekly subcutaneously for 8 weeks. Erythropoietic response and parameters of iron metabolism were recorded during rhuEPO treatment and further followed for 10 weeks post treatment. Haematocrit, haemoglobin, reticulocytes, serum iron, serum ferritin, transferrin, transferrin-saturation were monitored using routine laboratory methods. Results: Treatment with rhuEPO showed a significant change in most iron parameters. Interestingly we found a recovery of all iron parameters within 4 to 10 weeks after treatment. Conclusion: Iron parameters in FRDA-patients were significantly changed during eight weeks treatment with rhuEPO, but recovered to baseline levels after completion of the trial. These results indicate that there possibly appears a mobilisation of body iron through rhuEPO treatment.