Eosinophilic Gastritis and Enteritis Are Increased in Families With Eosinophilic Esophagitis

Am J Gastroenterol. 2023 Feb 1;118(2):263-268. doi: 10.14309/ajg.0000000000002021. Epub 2022 Sep 21.


Introduction: There are limited data on the familial risk of distal eosinophilic gastrointestinal diseases (EGIDs) in patients with eosinophilic esophagitis (EoE). We analyzed the risk of eosinophilic gastritis/gastroenteritis (EG/EGE) and eosinophilic colitis (EC) as forms of distal EGIDs using International Disease Classification-9/10 codes in subjects with EoE and their relatives.

Methods: The Utah Population Database is a resource that links genealogy information and medical records in Utah. We identified EGIDs in probands and their first-degree (FDRs), second-degree (SDRs), and third-degree (TDRs) relatives in the Utah Population Database. Relative risk and 95% confidence intervals were estimated. All individuals with inflammatory bowel disorder were eliminated to avoid misdiagnosis with EGIDs.

Results: We included 8,455 subjects with EoE, 396 with EG/EGE, and 172 with EC. Probands with EoE were at increased risk of EG/EGE and EC. Risks of EG/EGE were increased among FDRs and SDRs of probands with EoE , even without concomitant EoE in the relatives. Increased risk of EG/EGE in FDRs and SDRs was also present for EoE probands without EG/EGE or EC. We observed no isolated familial aggregation of EG/EGE after excluding cases with comorbid EoE. EC probands without EoE were at increased risk of EG/EGE, but no evidence of familial risk of EC was observed.

Discussion: The relative risk of EG/EGE is significant among relatives of patients with EoE, suggesting that shared genetic factors exist among these EGIDs. EG/EGE and EC showed limited familial clustering, although sample sizes were small.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Colitis, Microscopic*
  • Enteritis* / diagnosis
  • Enteritis* / epidemiology
  • Eosinophilic Esophagitis* / diagnosis
  • Eosinophilic Esophagitis* / epidemiology
  • Gastritis* / diagnosis
  • Gastroenteritis* / complications
  • Genetic Predisposition to Disease
  • Humans

Supplementary concepts

  • Eosinophilic enteropathy