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Linking Genetic Diagnosis to Therapeutic Approach in Very Early Onset Inflammatory Bowel Disease: Pharmacologic Considerations

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Abstract

Very early onset inflammatory bowel disease (VEO-IBD) is diagnosed in children < 6 years of age, and in rare cases may be due to an identifiable monogenic cause. Recent advances in genetic testing have allowed for more accurate diagnosis, with as many as 100 genes now known to be associated with monogenic inflammatory bowel disease. These genes are involved in many immune pathways and thus may represent potential avenues for targeted precision medicine with pharmacologic treatments aimed at these. This review describes the broad classifications of monogenic disorders known to cause VEO-IBD, as well as empiric and disease-specific medical therapies. These include immune-modulating or immunosuppressant medications, nutritional therapy, surgery, and hematopoietic stem cell transplantation. We aim to provide an overview of the current state of targeted therapy for VEO-IBD.

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Authors and Affiliations

  1. Division of Gastroenterology, Seattle Children’s Hospital Inflammatory Bowel Disease Center, Seattle, WA, USA

    Anne E. Levine, Hengqi B. Zheng & David L. Suskind

  2. Department of Pediatrics, University of Washington, Seattle, WA, USA

    Anne E. Levine, Hengqi B. Zheng & David L. Suskind

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  1. Anne E. Levine
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Correspondence to David L. Suskind.

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DLS is co-founder and Chief Medical Officer of NiMBAL Health, a digital Health Platform for IBD and is an Inventor for MicrobiomX. AEL and HBZ have declare they have no conflict of interest.

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Dr Levine drafted the initial manuscript. Drs Zheng and Suskind reviewed and edited the manuscript. All authors approved the final version.

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Levine, A.E., Zheng, H.B. & Suskind, D.L. Linking Genetic Diagnosis to Therapeutic Approach in Very Early Onset Inflammatory Bowel Disease: Pharmacologic Considerations. Pediatr Drugs 24, 207–216 (2022). https://doi.org/10.1007/s40272-022-00503-4

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  • DOI: https://doi.org/10.1007/s40272-022-00503-4

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