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Diagnosis of eosinophilic gastrointestinal diseases requires a high index of suspicion since these diseases can present at any age and symptoms overlap with a wide differential diagnosis of common childhood conditions.

Eosinophilic gastrointestinal diseases: rare conditions you may see in your practice

June 1, 2024

Editor’s note: This is the second in a series of articles on food allergies from the AAP Committee on Nutrition, Section on Allergy and Immunology and Section on Gastroenterology, Hepatology and Nutrition.

Eosinophilic gastrointestinal diseases (EGIDs) are chronic inflammatory conditions impacting the gastrointestinal (GI) tract hallmarked by elevated levels of end-organ eosinophilia.

EGIDs can occur at any location throughout the GI tract (e.g., eosinophilic esophagitis [EoE] and eosinophilic gastritis) or can affect multiple locations. Diagnosis requires a high index of suspicion, since these diseases can present at any age and symptoms overlap with a wide differential diagnosis of common childhood conditions.

Confirmation of the diagnosis requires upper and/or lower endoscopy with biopsy to identify elevated levels of eosinophils. Some centers are using less invasive forms of evaluation such as unsedated transnasal esophagogastroduodenoscopies.

EGIDs can be a primary condition or can occur secondary to malignancy, infection or other inflammatory conditions.

Focus on EoE

EoE is the most common form of EGIDs, affecting about one in 1,000 individuals. EoE is isolated to the esophagus and can occur at any age. Symptoms vary by age, severity and duration and can include vomiting, difficulty feeding or swallowing, abdominal pain, weight loss or faltering weight.

EoE (and EGIDs in general) can be familial and is more common in white males and in those with comorbid allergic conditions. However, the absence of these risk factors should not prevent consideration of EoE.

EoE treatment options include swallowed topical corticosteroids, high-dose proton pump inhibitors, empiric elimination diets and biologic therapy with dupilumab. In January, dupilumab gained approval for treatment of EoE of children as young as 1 year and weighing at least 15 kilograms. Previously, it was approved for children 12 years and older.

In February, the first oral therapy for EoE was approved for use in children 11 years and older with EoE. This medication, Eohilia, contains a budesonide oral suspension, which has been used off label. Eohilia is similar to swallowed fluticasone from a metered-dose inhaler.

Eosinophilia beyond the esophagus

Given the rarity and varied nature of non-EoE EGIDs, there has been a lack of consensus guidelines on how to diagnose and manage these conditions. Evidence is scarce on how EGIDs impact quality of life, affect patients from varied socioeconomic backgrounds and are impacted by factors associated with health equity.

Consensus-based clinical practice guidelines on the pathogenesis, epidemiology, diagnosis and current treatment options for non-EoE EGIDs recently were published by the European Society for Paediatric Gastroenterology, Hepatology and Nutrition and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (Papadopoulou A, et al. J Pediatr Gastroenterol Nutr. 2024;78:122-152, https://bit.ly/4cSJyvf).

Diagnosis of any form of EGID requires upper/lower endoscopy with biopsies. Therefore, co-management with a gastroenterologist is likely. It is important for pediatricians to be aware of these conditions and maintain a high index of suspicion in order to refer for additional evaluation.

Given the common nature of GI symptoms in children of all ages, a stepwise approach to evaluation and management can help identify children who may have EGIDs or other rare causes of underlying symptoms. For instance, children who have more severe or frequent GI symptoms or fail to respond to standard therapy for common conditions such as gastroesophageal reflux or constipation warrant consideration for referral to a pediatric gastroenterologist.

Additional red flags for potential EGIDs include hospitalization for primary GI complaints, weight loss, faltering weight or overly restrictive diets due to intolerance of multiple different foods.

Long-term management

EGIDs are chronic conditions that require ongoing therapy whether it be dietary or pharmacologic. The goal of therapy is to improve symptoms and quality of life, promote growth and development, and prevent complications.

Management of EGIDs varies based on the segment affected. The treatment plan is individualized based on symptoms, impact on growth and comorbid features. Long-term management is imperative to monitor for quality of life, adverse effects of therapy and relapse of symptoms.

Although non-EoE EGIDs are considered rare diseases, prevalence of EoE continues to rise due in part to increased awareness and recognition by primary care providers. Prompt diagnosis and collaboration among a multidisciplinary team that includes a gastroenterologist, allergist, dietitian and primary care provider are key to controlling disease appropriately and minimizing long-term complications.

Dr. Montoya Melo is a member of the AAP Section on Gastroenterology, Hepatology and Nutrition. Dr. Stukus is a member of the AAP Section on Allergy and Immunology Executive Committee.

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