Eosinophilic esophagitis (EoE) is an inflammatory disease affecting the esophagus, characterized by periods of clinical remission alternating with flare-ups. Eosinophils play a central role in this inflammatory process through the many cellular mediators they release during their activity.
EoE is an immune-mediated, allergy-related disorder. In many cases, the cause of the chronic inflammation can be linked to a food allergy and/or a respiratory allergy. Sometimes, however, even after allergy testing and dietary trials, the likely cause of the disease remains unclear. Autoimmune mechanisms, which may also involve other parts of the gastrointestinal tract, may play a role in the development of this condition.
During active phases of the disease, the patient may experience typical symptoms or signs. In some cases, however, EoE presents with non-specific symptoms that can mimic gastroesophageal reflux disease. The most common symptoms include difficulty in moving food through the esophagus (dysphagia, meaning the sensation that food is passing with difficulty), pain and/or burning in the upper abdomen (epigastrium), chest pain or burning behind the breastbone (retrosternal pain and heartburn), and refusal to eat, which may lead to growth faltering, slowed growth, or weight loss. In some cases, recurrent episodes of acute food bolus obstruction are the first manifestation of the disease. A child may swallow a bite of food—often a piece of steak—and feel that it “will neither go down nor come back up.” They may try to drink repeatedly, but sometimes this is not enough to dislodge it. In such cases, they may need to go to the Emergency Department, where an endoscopic procedure is sometimes required to remove the impacted food. These episodes may be seasonal and occur especially in spring
Endoscopy with multiple esophageal biopsies is the only reliable method for evaluating the disease, including at the histological level, both for diagnosis and for follow-up. All patients in whom this condition is suspected undergo this examination as the first diagnostic step.
Esophagogastroduodenoscopy (EGD) is performed under deep sedation in a day hospital setting. The aim of the procedure is to assess for any visible abnormalities of the esophageal lining and to collect small tissue samples so that histological examination can be carried out, including eosinophil count and assessment of the degree of inflammation. Once histological findings are found to be consistent with eosinophilic esophagitis, in a patient whose clinical history is strongly suggestive of the disease, and after other causes of pathological gastroesophageal reflux have been excluded, allergy investigations should be started in order to identify a possible underlying cause of the condition.
EoE is a chronic disease that requires long-term treatment, tailored to each individual patient. Management is varied and often complex: once the initial phase of the disease has been brought under control, it becomes essential to prevent possible flare-ups, which are often greatly feared by patients, especially during adolescence, with important psychological implications. Medications and dietary treatment are the options most commonly proposed. Among the medications used are corticosteroids—particularly topical agents such as fluticasone or budesonide—leukotriene receptor antagonists, and biologic therapies (for example anti-IL-5 antibodies), some of which are still under investigation. Diet can be highly effective. If there is clear sensitization to specific foods, such as milk, egg, or wheat, these may be removed from the diet first. Milk is the food most frequently involved. An even more effective approach is the six-food elimination diet—excluding milk, egg, fish, wheat, soy, and tree nuts—which leads to significant improvement in about 80% of cases.
Eosinophilic esophagitis is one of the clearest examples of a condition that benefits from a multidisciplinary approach involving different specialist skills. Both diagnosis and treatment require the shared involvement of pediatricians, allergists, gastroenterologists, pathologists, surgeons, and psychologists, all working toward the common goal of achieving the most comprehensive care possible for the patient.
Future research should focus on the epidemiology and natural history of the disease. A deeper understanding of the pathogenic mechanisms underlying this condition, supported by the contribution of different medical specialties, is essential in order to establish a correct and consistent diagnostic and therapeutic pathway.
