Early Diagnosis Vital to Prevent Impairment From Pediatric EGIDs

Diagnostic delays among pediatric patients who ultimately are told they have an eosinophilic gastrointestinal disorder (EGID) have potential to impair growth among these patients, according to new data from a cohort of 60 patients.

The study investigators noted potential impacts from this on esophageal stenosis and failure to thrive (FTT). Their study findings published recently in Italian Journal of Pediatrics, and they emphasized that they took up their investigation because EGIDs “are chronic/remittent inflammatory diseases associated with a substantial diagnostic delay, often attributable to misdiagnosis and variable clinical presentation in adults.”

The study period was June 2021 through July 2022 for pediatric patients—for this analysis, younger than 19 years at diagnosis—receiving care for EGID at the Center for Pediatric EGIDs in Pavia, Italy. Sixty patients were included, with most (65%, n = 39) having eosinophilic esophagitis (EoE) and the rest (35%, n = 21) having nonesophageal EGIDs. The most common age at diagnosis was 6 to 11 years (41.6%); 63% had coexisting allergic diseases, of which allergic rhinitis (50%) was most prevalent; the top 3 symptoms were abdominal pain (53%), GERD-like symptoms (33%), and nausea/vomiting (25%); and most common endoscopic findings were edema (32%), normal muscosa (18%), and rings (15%). A majority of the patient population was Caucasian (88%) and male (70%).

Overall, 70% of the patients with EoE had coexisting allergic diseases compared with 52% of the patients with nonesophageal EGIDs. Issues specific to the patient with EoE were feeding issues (18%), food impaction (21%), and dysphagia (23%), and diarrhea accompanied by weight loss was seen in almost 3 times as many patients with nonesophageal EGIDs (38% vs 14%). FTT was seen in 20% of all patients, with 26% of patients with EoE having this vs 10% of patients with nonesophageal EGIDS.

It took close to 2 years after patients experienced symptom onset for an EGID diagnosis to be handed down, with a median (IQR) time to diagnosis of 12 (12-24) months. This time was equivalent between the patients with EoE and those with nonesophageal EGIDs: 12 (4-24) and 12 (12-69) months, respectively. The longest diagnostic times were 24 (8-54) months among school-aged children and 12 (12-30) months among adolescents.

Also, for the patients with EoE, their FTT (P = .02) and any feeding issues (P = .05) predisposed them to longer diagnostic times vs the children without such issues. Even having a symptom that suggested EoE, such as food impaction (P = .21), was not associated with shorter time to diagnosis. And among those with nonesophageal EGIDs, the presence of diarrhea (P = .92) or abdominal pain (P = .82) did not equate to shorter diagnostic times.

The study investigators noted that the 2-year period before diagnosis that they saw was shorter than has been noted in the literature. However, these studies are limited, they added. For example, one study noted a median diagnostic delay of 6 years for ages 20 and under while another study found a longer diagnostic delay in adult patients compared with a pediatric population. And a third study saw 44.3% of patients with eosinophilic gastritis/duodenitis being misdiagnosed at least once.

The study authors speculate that reasons for delays in diagnosing EGIDs include the diseases’ heterogeneity and the lack of noninvasive biomarkers, particularly for nonesophageal EGIDs.

“This study highlighted that it is fundamental to identify all delay points, starting with raising awareness among family pediatricians on EGIDs and promptly referring suspicious cases,” the authors concluded. “Multidisciplinary pediatric evaluation and close collaboration with endoscopists and pathologists are pivotal in early identifying suspected cases, monitoring confirmed cases of EGIDs, and preventing potential growth complications.”

Reference

Votto M, Lenti MV, De Silvestri A, et al. Evaluation of diagnostic time in pediatric patients with eosinophilic gastrointestinal disorders according to their clinical features. Ital J Pediatr. Published online January 16, 2023. doi:10.1186/s13052-023-01410-1