Abstract
Most patients with glycogen storage disease (GSD) type Ib show features related to inflammatory bowel disease (IBD). The development of IBD seems to be associated with the defect of neutrophil function in GSD Ib. Patients with GSD Ia were not recognized to have similar gastrointestinal complaints until recently and are not associated with a neutrophil defect. Fifty consecutive GSD Ia inpatients over the age of 2 years without a diagnosis of IBD were screened using serologic and genetic markers via the Prometheus IBD sgi Diagnostic test. Eleven patients were tested positive for IBD (22%), with five fitting the pattern for Crohn’s disease, five for ulcerative colitis, and one with nonspecific IBD. Only 2 out of the 11 patients had any gastrointestinal complaints. No pattern could be distinguished from individual inflammatory markers, genetics, inflammation antibodies, age, complications, or metabolic control. Of note, 9 out of 11 patients testing positive were female. Patients with GSD Ia were found to have a higher rate of serologically indicated IBD when compared with the general population. While these subjects will need to be followed to determine if these serologic markers correlate with clinical disease, this study supports that IBD may be more common in the GSD Ia population. Further studies are warranted to explain the relationship between IBD and GSD I since it may provide clues regarding the pathogenesis of IBD development in the general population.
Competing interests: None declared
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Acknowledgment
We would like to thank the following nurses of the Clinical Research Center for their assistance: Charles J. Church, Emma B. Labrador, Dorothy G. Nichols, and Elizabeth A. Potocik. This research was supported by philanthropic support provided by the following funds managed through the University of Florida Office of Development: the GSD Ia Research Fund and Charlotte’s Cure for Type Ia GSD. This work was also supported in part by the NIH/NCATS Clinical and Translational Science Award UL1 TR000064 granted to the University of Florida. Prometheus Laboratories provided the serological testing used in this study.
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Communicated by: Gerard T. Berry, M.D.
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Synopsis
Serologic panels suggest inflammatory bowel disease may be a new complication of glycogen storage disease type Ia.
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The authors declare that they have no conflict of interest.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study. The study was approved by the University of Florida Institutional Review Board (IRB201300312).
Details of the Contributions of Individual Authors
NL and DW conceived of and participated in the design of the study. NL, TC, and LB recruited participants for the study. TC performed the data collection and statistical analysis. NL and TC co-drafted the manuscript and LB and DW provided critical review. All authors read and approved the final manuscript.
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Lawrence, N.T., Chengsupanimit, T., Brown, L.M., Weinstein, D.A. (2015). High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type Ia. In: Zschocke, J., Baumgartner, M., Morava, E., Patterson, M., Rahman, S., Peters, V. (eds) JIMD Reports, Volume 24. JIMD Reports, vol 24. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_452
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DOI: https://doi.org/10.1007/8904_2015_452
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