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Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b

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Abstract

Background

Neutropenia and/or neutrophil dysfunction are part of glycogen storage disease type 1b (GSD1b) phenotype. Recent studies indicated that activation of apoptosis and increased reactive oxygen species are implicated in the pathogenesis of neutropenia in GSD1b.

Methods

We studied seven GSD1b patients over a 2-year-period to evaluate the efficacy of vitamin E, a known antioxidant, in preventing or improving the clinical manifestations associated with neutropenia and neutrophil dysfunction. Frequency and severity of infections, neutrophil counts and function, ileocolonoscopy and intestinal histology, were monitored. During the first year, patients did not assume vitamin E; during the second year of the study, vitamin E supplementation was added to their therapeutic regimens.

Results

During vitamin E supplementation, the mean values of neutrophil counts were significantly higher (p < 0.05) and neutrophil counts lower than 500/mm3 were found less frequently (p < 0.05); the frequency and severity of infections, mouth ulcers and perianal lesions, was reduced (p < 0.05); ileocolonoscopy and histology showed a mild improvement. Vitamin E supplementation did not result in changes in neutrophil function.

Conclusions

These results suggest that vitamin E supplementation might be beneficial in GSD1b patients and may alleviate disease manifestations associated with neutropenia.

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Acknowledgment

We are grateful to “Associazione Italiana Glicogenosi” (AIG) and AIFA–Italian Agency of Medicine- who strongly supported the study.

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Authors and Affiliations

  1. Department of Pediatrics, “Federico II” University, Via Sergio Pansini, 5, 80131, Naples, Italy

    D. Melis, R. Della Casa, V. Gaudieri, G. Andria & G. Parenti

  2. Department of Pediatrics, “Ospedale S. Gerardo”, Monza, Italy

    R. Parini & M. Rigoldi

  3. Department of Hematology, “Federico II” University, Naples, Italy

    C. Cacciapuoti

  4. Department of Pathophysiology, Experimental Medicine and Public Health, University of Siena, Siena, Italy

    P. Marcolongo & A. Benedetti

  5. Telethon Institute of Genetics and Medicine, Naples, Italy

    G. Parenti

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  1. D. Melis
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  2. R. Della Casa
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  3. R. Parini
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  4. M. Rigoldi
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  5. C. Cacciapuoti
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  6. P. Marcolongo
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  7. A. Benedetti
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  8. V. Gaudieri
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  9. G. Andria
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  10. G. Parenti
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Corresponding author

Correspondence to G. Parenti.

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Melis, D., Della Casa, R., Parini, R. et al. Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b. Eur J Pediatr 168, 1069–1074 (2009). https://doi.org/10.1007/s00431-008-0889-5

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  • DOI: https://doi.org/10.1007/s00431-008-0889-5

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