Paediatr Drugs. 2022 May;24(3):207-216. doi: 10.1007/s40272-022-00503-4.Epub 2022 Apr 25.

Anne E Levine ^1 2, Hengqi B Zheng ^1 2, David L Suskind ^3 4

Author information

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

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

³Division of Gastroenterology, Seattle Children's Hospital Inflammatory Bowel Disease Center, Seattle, WA, USA. David.Suskind@seattlechildrens.org.

⁴Department of Pediatrics, University of Washington, Seattle, WA, USA. David.Suskind@seattlechildrens.org.

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.