Very early onset inflammatory bowel disease in Jordan: a single-center case series of clinical, genetic, and therapeutic features

What To Know

This open‑access case series from a single center in Jordan describes 10 children with very early onset IBD (symptom onset before age 6), reporting clinical features, endoscopic and histologic findings, genetic testing results, treatments used, and outcomes.

Genetic testing in eight children identified pathogenic or likely pathogenic variants in six and variants of uncertain significance in two, implicating multiple genes (examples listed in the article include MEFV, CYBB, G6PC3, GUCY2C, NPC1, NOD2, RIPK1, LRBA).

Therapies documented included infliximab, mesalazine, azathioprine, budesonide, IVIG, elemental diet, colchicine, and referrals for hematopoietic stem cell transplantation (HSCT); one patient died of infection‑related multi‑organ failure.

The authors highlight genetic heterogeneity (including co‑occurring variants) and limited access to targeted agents and HSCT as factors linked to poorer outcomes in this cohort. The report proposes a possible digenic contribution in at least one severely affected child but presents this as a candidate mechanism rather than proven causation.

Practical points: the paper supports early genomic testing and multidisciplinary care for children with VEOIBD and documents real‑world treatment limitations in the reported center. It does not provide randomized comparisons or new treatment efficacy data.