Presentation: Family with a history of inflammatory bowel disease

You are reviewing a 10-year-old boy in your clinic, who has been diagnosed with Crohn’s disease. His parents mention they are thinking about extending their family and would like to know if there is a risk of future children being affected.

• Inflammatory bowel disease (IBD) is usually caused by complex interactions between genetic and environmental factors and typically presents during adolescence/early adulthood.
• The presence of a family history of IBD alone does not meet eligibility criteria for genomic testing in the National Genomic Test Directory.
• For a small number of patients with inflammatory bowel disease, often presenting in early childhood with additional features such as immunodeficiency, there may be a monogenic cause. In this context, genomic testing is available for affected children.

• If there is a family history of IBD with no additional features to make you suspect a monogenic form, no genomic testing is indicated.
  • Instead, explain to the family that the presence of a family history of the IBD does slightly increase the risk of further family members being affected, but there is no testing that can usefully be done in this context.
• If you suspect a monogenic form of IBD (for instance where there is onset in early childhood, additional features such as immunodeficiency and/or inflammation or autoimmunity, congenital defects, early malignancy), consult Presentation: Child with suspected monogenic inflammatory bowel disease for eligibility criteria for genomic testing of an affected individual.

For clinicians

• NICE: Inflammatory bowel disease

References:

• G N and Zilbauer M. ‘Epigenetics in IBD: a conceptual framework for disease pathogenesis‘. Frontline Gastroenterology 2022: volume 13, issue e1, pages e22–e27. DOI: 10.1136/flgastro-2022-102120
• Khor B, Gardet A and Xavier RJ. ‘Genetics and pathogenesis of inflammatory bowel disease‘. Nature 2011: volume 474, issue 7,351, pages 307–317. DOI: 10.1038/nature10209

For patients

• Crohn’s & Colitis UK: Supporting your child
• Crohn’s In Childhood Research Association (Circa)
• NHS Health A to Z: Inflammatory bowel disease