Erythropoietin treatment in the neuropsychiatric porphyrias.
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 delta-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 delta-aminolaevulinic acid, porphobilinogen and total porphyrins were measured monthly. Baseline serum ferritin, vitamin B(12), folate and C-reactive protein levels were all within the normal range and serum creatinine did not exceed 126 micromol/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 delta-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.


CONCLUSIONS
We conclude that in some porphyric patients treatment with erythropoietin reduces urinary delta-aminolaevulinic acid, porphobilinogen and porphyrin levels with an increase in well-being and a reduction in the severity of porphyria attacks.
Winkler
Andrea S
AS
Department of Medicine, King's College Hospital, London, UK.
Peters
Timothy J
TJ
Marsden
Joanne T
JT
Deacon
Allan C
AC
Chandler
Georgina
G
Macdougall
Iain C
IC
D000328:Adult; D000368:Aged; D000622:Aminolevulinic Acid / Q000652:urine; D004921:Erythropoietin / Q000494:pharmacology / Q000627:therapeutic use*; D005260:Female; D006403:Hematologic Tests; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000150:complications*; D008875:Middle Aged; D011162:Porphobilinogen / Q000652:urine; D011164:Porphyrias / Q000150:complications* / Q000188:drug therapy* / Q000652:urine; D011166:Porphyrins / Q000652:urine
D006454:Hemoglobins; D011166:Porphyrins; D004921:Erythropoietin; D011162:Porphobilinogen; D000622:Aminolevulinic Acid