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EoE Diagnosis
Detecting EoE Across the Age Continuum: Expert Insights on the Impact of Diagnosis on Outcomes

Released: September 18, 2024

Expiration: September 17, 2025

Seema S. Aceves
Seema S. Aceves, MD, PhD
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Key Takeaways
  • Eosinophilic Esophagitis (EoE) symptoms vary with age, from vomiting in infants to dysphagia in older children and adults. Prompt recognition and elicitation of these symptoms are essential for early detection and management.
  • Delayed diagnosis can lead to severe clinical consequences, including esophageal strictures and food impactions, which are challenging to treat and can significantly impact disease outcomes.

The pathophysiology of eosinophilic esophagitis (EoE) is complex and multifaceted, involving a cascade of immune-mediated processes triggered by food antigens, and culminating in chronic inflammation and tissue remodeling within the esophagus. Eosinophils are a key feature of EoE, serving as both a biomarker and a contributor to the disease process. However, recent research has highlighted that eosinophils are not the sole pathogenic cells involved in EoE. The disease is increasingly recognized as a type 2 inflammatory disorder that involves a broader spectrum of immune cells, including T-cells, mast cells, structural cells such as epithelial cells, and innate type 2 lymphoid cells (ILC2s). These cytokines play a central role in driving the inflammatory response in EoE, promoting the recruitment and activation of eosinophils and other immune cells to the esophageal mucosa.

In response to chronic injury, the esophageal epithelium produces additional cytokines such as thymic stromal lymphopoietin (TSLP), interleukin (IL)-25, and IL-33, which further perpetuate the inflammatory response by signaling the secretion of cytokines such as IL-13, IL-4, and IL-5. If this inflammation is not adequately controlled, it can lead to esophageal remodeling characterized by subepithelial fibrosis, smooth muscle hypertrophy, and angiogenesis. These structural changes result in esophageal rigidity, dysmotility, and stricture formation, severely impairing the passage of food and leading to complications such as food impactions, weight loss, and growth failure in children. The chronicity of these changes underscores the importance of early and effective intervention to prevent irreversible damage to the esophagus.

Diagnosing EoE requires a multifactorial assessment encompassing clinical presentation, endoscopic findings, and histopathologic evaluation. A diagnosis can be confirmed when more than 15 eosinophils per high-power field are observed on esophageal biopsy. However, it is important to note that EoE can be a patchy and pan-esophageal disease, meaning that eosinophilic infiltration can occur throughout the esophagus. Therefore, multiple biopsies (≥6) from varying sites (eg, proximal, medial, and distal esophageal regions) are required to ensure a comprehensive assessment and avoid missed diagnoses. In addition, clinicians must differentiate EoE from other conditions that can cause esophageal eosinophilia, such as gastroesophageal reflux disease (GERD), celiac disease, and connective tissue disorders. A thorough evaluation of the clinical context and careful interpretation of biopsy results are essential to making an accurate diagnosis of EoE.

The Critical Role of Early Diagnosis in EoE Management
EoE represents a significant diagnostic and therapeutic challenge. As the diagnosis of EoE requires endoscopy and biopsy, a process that can inherently limit early detection, many cases of EoE remain undiagnosed until significant clinical consequences arise. Early diagnosis is paramount in EoE management due to the risk of chronic, untreated inflammation leading to esophageal strictures—a complication that markedly complicates patient outcomes. Strictures occur due to chronic inflammation that triggers esophageal remodeling, leading to fibrosis and narrowing of the esophageal lumen. Once strictures are established, esophageal dilation and concurrent anti-inflammatory therapy are required to manage the condition effectively.

In the United States, studies have consistently shown that fibrostenotic changes render the EoE esophagus harder to treat than a nonfibrostenotic esophagus. In cases of treatment failure or nonadherence, patients are at heightened risk for esophageal narrowing, which subsequently increases the likelihood of food impactions—another serious clinical consequence of EoE. The risk of food impactions underscores the importance of consistent follow-up for patients diagnosed with EoE. Lapses in follow-up care have been correlated with an increased incidence of strictures and food impactions, emphasizing the need for sustained management and monitoring. Although strictures are not as common in pediatric patients compared to adults, children with EoE are still at risk for food impactions, suggesting that the potential for esophageal narrowing and dysmotility in this population may be underappreciated or less easily detected. Given these findings, it is clear that early diagnosis and consistent management are critical in preventing the long-term complications associated with EoE.

Recognizing Age-Specific Symptoms of EoE Across the Lifespan
The clinical presentation of EoE varies significantly across different age groups, which can complicate the diagnostic process and contribute to delays in diagnosis. In very young children, EoE often presents with nonspecific symptoms such as vomiting, failure to thrive, and irritability—symptoms that are commonly attributed to GERD. This overlap in symptomatology necessitates a high index of suspicion among healthcare professionals (HCPs), particularly when GERD treatments fail to provide relief. The challenge lies in distinguishing EoE from GERD, as both conditions can present similarly in this age group. Consequently, HCPs must consider EoE in the differential diagnosis of persistent GERD-like symptoms, especially in cases where initial treatments are ineffective.

As children reach school age, the clinical presentation of EoE shifts, with abdominal pain becoming a more common complaint. However, abdominal pain is a nonspecific symptom and is only questionably reflective of esophageal dysfunction, which complicates the diagnostic process. In these cases, HCPs must be diligent in assessing the broader clinical picture, taking into account the possibility of EoE even when symptoms do not directly indicate esophageal involvement. The presentation of EoE becomes more specific in adolescence and adulthood, where dysphagia emerges as the predominant symptom. Dysphagia in these age groups should prompt further investigation or referral for EoE, particularly if it is chronic or associated with other symptoms such as food impactions or chest pain. The suspicion for EoE should be raised with any of these symptoms and in all age groups when there is concurrent atopy such as IgE-mediated food allergy, asthma, eczema, and/or allergic rhinitis.

Dysphagia is not only a physical symptom but also has a profound impact on quality of life. It can influence patients' social interactions, eating habits, and overall well-being. Over time, patients with chronic dysphagia may knowingly or inadvertently normalize the condition as they adapt their eating behaviors as a coping strategy. This phenomenon may obscure the severity of their condition. For instance, patients may chew food excessively, avoid certain foods, eat over extended time periods, or rely more heavily on liquids to assist swallowing—all of which can mask the underlying issue of dysphagia. Therefore, HCPs must employ targeted questioning to uncover these adaptive behaviors and accurately assess the presence and severity of dysphagia. Inquiring about specific behaviors, such as prolonged mealtimes, reluctance to eat in social settings, or avoidance of certain foods, can provide critical insights into the patient’s experience and guide further diagnostic evaluation.

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