Relatives of patients with eosinophilic esophagitis (EoE) are at increased risk of developing eosinophilic gastritis/gastroenteritis (EG/EGE), according to a study, which suggests shared genetic factors among these eosinophilic gastrointestinal diseases (EGIDs).
To address the lack of data on the familial risk of EGIDs in EoE patients, a team of investigators analysed the risk of EG/EGE and eosinophilic colitis (EC) as forms of distal EGIDs using the International Disease Classification-9/10 codes in patients with EoE and their relatives.
The team used the Utah Population Databases, a resource that links genealogy information and medical records in Utah, to identify EGIDs in probands and their first-degree (FDRs), second-degree (SDRs), and third-degree (TDRs) relatives. Individuals with inflammatory bowel disorder were excluded from the analysis to prevent misdiagnosis with EGIDs.
A total of 8,455 patients with EoE, 396 with EG/EGE, and 172 with EC were included in the study. Probands with EoE had a higher risk of EG/EGE and EC. FDRs and SDRs of probands with EoE were also at increased risks of EG/EGE, even in the absence of concomitant EoE in the relatives. The higher risk of EG/EGE in FDRs and SDRs were also observed for EoE probands with no EG/EGE or EC.
Notably, the investigators did not observe any isolated familial aggregation of EG/EGE after excluding individuals with comorbid EoE. Moreover, EC probands without EoE had an increased EG/EGE risk, but there was no evidence of familiar EC risk seen.
“EG/EGE and EC showed limited familial clustering, although sample sizes were small,” the investigators said.