A recent publication (Full text: NASPGHAN Position Paper on the Evaluation and Management for Patients with Very Early-onset Inflammatory Bowel Disease. JR Kelsen et al. JPGN 2020; 70: 389-403) is more of a review than a true position paper. A related upcoming study (highlighted tomorrow) indicates that ~8% of VEO-IBD patients have underlying monogenetic forms of IBD.

While the article makes numerous useful points, explicit recommendations are not clearly stated.

Key Points:

• Epidemiology: 6-15% of pediatric IBD population presents at <6 years of age
• Children with VEO-IBD need careful immunologic evaluation.  Some of the specific disorders that need to be considered include Chronic Granulomatous Disease (can check DHR) and XIAP (can check a flow cytometry-based assay).
• Besides panendoscopy, the article recommends close collaboration with the pathologist to identify specific features of the numerous VEO-IBD disorders (most listed/described in Table 1)
• Identification of VEO-IBD disorders with genetic testing (either whole exome or targeted gene panel) helps determine specific medical therapies and/or stem cell transplantation for disorders like CTLA4B deficiency, LRBA defects, IL-10 deficiency, XIAP, STXBP2, and FOXP3 deficiency.
• Infliximab does not work as well in VEO-IBD patients.  A recent study found only 12% remained on infliximab 3 years after initiation.
• VEO-IBD were much more likely to need surgery with rates of 50% for those with onset before 1 year and ~30% for those after 1 year of age.  Colectomy should be considered with caution due to the overlapping presentation of Crohn’s disease and ulcerative colitis in this age group.

One topic that was not discussed was the potential role for dietary therapy in this age group.

Related blog posts:

• Patterns and Puzzles with VEO-IBD This is a very good review and the image on this day has one of my favorite patient t-shirts.
• More IBD Cases Than Ever in Young Canadian Children | gutsandgrowth
• Expanding VEO Variants
• Why the Genetics of Inflammatory Bowel Diseases Matter Now
• IBD and Immune-Mediated Diseases | gutsandgrowth
• More IBD Cases Than Ever in Young Canadian Children | gutsandgrowth
• IBD Shorts: September 2019 NCF4 defects
• Just the Beginning: Mutations in Very Early Onset … – gutsandgrowth
• Exome Sequencing in VEO-IBD: More Data | gutsandgrowth

The following related images are from Eric Topol’s twitter feed and share figures from a Nature review.

Seen on Eric Benchimol’s twitter feed