A novel variant in RUNX1 in a patient with refractory eosinophilic gastrointestinal disease and long-term clinical response to ketotifen

• DOI: 10.14785/lymphosign-2022-0010
• Publication Date: 2022-08-30T21:39:06Z
• Authors: Ori Scott; Jenny Garkaby; Laura Abrego Fuentes; Chaim M. Roifman; Jessica Willett P...
• Keywords: Ketotifen; Eosinophilic Esophagitis; Eosinophilic gastroenteritis; Etiology

Background: Eosinophilic gastrointestinal disease (EGID) is an umbrella term for a heterogeneous group of disorders affecting the GI tract. In contrast to relatively common eosinophilic esophagitis (EoE), gastroenteritis (EGE) remains poorly understood in terms both its pathophysiology and genetic etiology, while treatment options remain limited. Aim: To expand genotypic spectrum EGE describe our long-term experience with ketotifen. Methods: Case report patient followed by team over 27 years. Results: Our was diagnosed at age 4 years, accompanied multiple other atopic manifestations serum eosinophilia. He later heterozygous variant RUNX1, gene implicated multi-lineage hematopoiesis, inhibition Th2 polarization T regulatory cell function. The has experienced symptom improvement treated mast stabilizing H1 antihistamine, ketotifen, substantial symptomatic worsening after this agent briefly stopped. Conclusion: We EGID etiology include mutations suggest ketotifen as viable option patients treatment-refractory EGE. Statement novelty: This case reports on possible novel cause describes successful clinical management