Winkler, Andrea S., Peters, Timothy J., Marsden, Joanne T., Deacon, Allan C., Chandler, Georgina, and Macdougall, Iain C.
Background: In a previous report, 31 patients with neuropsychiatric porphyria were studied and nine of these patients were anaemic in association with inappropriately low serum erythropoietin levels. We were also able to demonstrate that treatment with erythropoietin in non-porphyric patients (mainly diabetic patients with autonomic neuropathy) significantly reduced urinary δ-aminolaevulinic acid levels. Methods: We treated six porphyric patients, five of whom were anaemic, with recombinant human erythropoietin (1000–2000 IU thrice weekly). They were all in clinical but not biochemical remission. Full blood count, including reticulocytes and platelets, urinary δ-aminolaevulinic acid, porphobilinogen and total porphyrins were measured monthly. Baseline serum ferritin, vitamin B12, folate and C-reactive protein levels were all within the normal range and serum creatinine did not exceed 126 μmol/l. Results: After 3 months of treatment, the average baseline haemoglobin increased significantly (p=0.01). When treatment was stopped, the haemoglobin decreased and after 3 months pre-treatment, haemoglobin levels were reached. Urinary δ-aminolaevulinic acid, porphobilinogen and porphyrin levels all tended to decrease during treatment with erythropoietin, but the difference between baseline and 3 months of erythropoietin was statistically significant only for porphobilinogen (p=0.03). The severity of porphyria attacks was reduced and the quality of life increased during treatment with erythropoietin. Conclusion: We conclude that in some porphyric patients treatment with erythropoietin reduces urinary δ-aminolaevulinic acid, porphobilinogen and porphyrin levels with an increase in well-being and a reduction in the severity of porphyria attacks. [Copyright &y& Elsevier]