Diagnosis of Eosinophilic Esophagitis
SUMMARY:
Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease characterized by inflammation in the esophagus. Diagnosis of EoE involves a combination of clinical, endoscopic, and histological criteria. The American College of Gastroenterology (ACG) and the Guidelines from the American Society for Gastrointestinal Endoscopy (ASGE) provide evidence-based recommendations for the diagnosis and management of EoE.
Clinical Presentation
- Most often diagnosed in people ages 20 to 30 years, with increasing incidence since the disease was first described in the 1990s
- More common in men than women
- Associated with a history of allergic conditions (e.g., asthma, eczema, allergic rhinitis)
- Patients may have a family history of EoE
- Presenting symptoms can be nonspecific and include
- Retrosternal chest pain
- Dysphagia
- Food impaction
- Heartburn that does not respond to antacids
- Regurgitation of food
- Food avoidance
- Abdominal pain
- Nausea
- Differential Diagnosis
- GERD
- IBD (e.g., Crohn’s disease) | Celiac disease
- Achalasia
- Drugs (e.g., pill esophagitis, drug hypersensitivity reaction)
- Vasculitis | Mixed connective tissue disease
- Infections (e.g., fungal and viral infections)
Diagnosis
- ACG and ASGE agree on the diagnostic criteria of EoE
- Endoscopy is crucial both for diagnosis and management of EoE
- Diagnosis of EoE thus depends on a multidisciplinary team that includes GI specialists
- A PPI trial, which required patients to have persistent eosinophilia on esophageal biopsies after 8 weeks of PPI treatment, was removed from the diagnostic criteria in a 2018 update
- In the past, PPI trial was considered a diagnostic criterion to help rule out PPI responsive esophageal eosinophilia (PPI – REE), which was seen as a separate disease process from EoE
- PPI – REE is now considered synonymous with EoE, and PPI therapy is an important therapy which can help achieve remission in a significant portion of EoE patients
- A response to treatment (e.g., topical steroids) supports diagnosis, but is not part of the diagnostic criteria
- Endoscopic findings that support diagnosis include: Esophageal rings | Esophageal furrows |White plaques |Evidence of mucosal inflammation (e.g., erythema and friability)
- An endoscopically normal appearing esophagus can occur in 10% to 32% of patients with EoE
- The ASGE recommends that endoscopic biopsies be taken from at least 6 different sites in the esophagus as EoE is a patchy disease
- Sensitivity approaches 100% after 5 to 6 biopsy samples
- Given the high rate of endoscopically normal appearing esophagus with EoE, biopsies should be taken regardless of endoscopic appearance
Diagnostic Criteria
- Patients must have the following for diagnosis
- Symptoms related to esophageal dysfunction
- Histopathology from esophageal biopsies showing eosinophilic inflammation, defined as ≥15 eosinophils per high power field (HPF)
- Exclusion of other causes of eosinophilia (see differential diagnosis above)
KEY POINTS:
- EoE was first described as a unique disease in the 1990s and it is associated with other atopic diseases
- EoE cannot be diagnosed on clinical presentation alone, and requires histopathologic evidence of eosinophilic inflammation on esophageal biopsies
- PPI trials are no longer part of the diagnostic criteria for EoE, and PPIs play an important part in treatment of EoE (see related topics for further information)
