What is the diagnosis and treatment approach for a patient with suspected eosinophilic esophagitis?

Eosinophilic Esophagitis: Diagnosis and Treatment

Diagnostic Approach

Diagnosis requires endoscopy with at least six biopsies from different esophageal sites showing ≥15 eosinophils per 0.3 mm² (high-power field) in any specimen, accompanied by characteristic histological features and clinical symptoms. 1

Key Diagnostic Criteria

• Biopsy protocol: Obtain at least six specimens from different anatomical sites within the esophagus for both initial diagnosis and follow-up assessment 1
• Histological threshold: ≥15 eosinophils per 0.3 mm² in any biopsy specimen establishes the diagnosis 1
• Additional histological features that support the diagnosis include basal cell hyperplasia, edema (spongiosis), eosinophil microabscesses, eosinophil layering, eosinophil degranulation, and subepithelial sclerosis 1
• Endoscopic features to identify include linear furrows, white plaques/exudates, concentric rings (trachealization), strictures, and narrow-caliber esophagus 1, 2

Critical Diagnostic Considerations

• EoE and GERD can coexist in the same patient and are not mutually exclusive 1
• PPI-responsive EoE is the same disease entity as PPI-refractory EoE; response to PPI does not exclude the diagnosis 1
• Endoscopists frequently underestimate the presence of strictures and narrow lumen esophagus, so careful examination is essential 1

Treatment Strategy

Treatment should target both symptomatic relief and histological remission (defined as <15 eosinophils/0.3 mm²), with the primary goal of preventing progressive fibrosis and stricture formation. 1, 3

First-Line Treatment Options

You have three equally effective first-line approaches—choose based on patient preference, lifestyle, and resources:

1. Proton Pump Inhibitors (PPIs)

• Effective as initial therapy regardless of whether GERD coexists 1
• If unwanted side effects occur (diarrhea, GI infections, magnesium deficiency), switch to alternative treatments such as diet or topical steroids 1

2. Topical Corticosteroids

• Most widely used pharmacological treatment with proven efficacy for inducing clinical, endoscopic, and histological remission 1, 4
• Likely reduces the development of strictures with long-term use 1
• Candida infection may occur in a small proportion of patients; manage with topical antifungals while continuing topical steroids 1
• Systemic side effects have not been documented during long-term treatment in adults; however, continued monitoring of bone mineral density and adrenal suppression is recommended in children and adolescents 1

3. Elimination Diets

• Effective in achieving clinico-histological remission in both adults and children 1
• Six-food elimination diet results in higher histological remission rates than two- or four-food elimination diets but is associated with lower compliance and increased number of endoscopies 1
• Support from an experienced dietitian throughout both elimination and reintroduction is strongly recommended 1
• Allergy testing (skin prick, specific IgE, patch testing) is NOT recommended for choosing dietary restriction therapy 1
• Exclusive elemental diets have high efficacy but low compliance and limited practical role 1
• The psychological impact of dietary therapy should be appreciated and discussed with patients and carers 1

Combination Therapy

• Combining elimination diets with pharmacological treatment is NOT routinely recommended but can be considered in cases of drug treatment failure 1

Therapies NOT Recommended

• Immunomodulators (azathioprine, 6-mercaptopurine) are not recommended 1
• Anti-TNF and anti-integrin therapies used for inflammatory bowel disease are not recommended 1
• Sodium cromoglycate, montelukast, and antihistamines are not recommended for EoE management (though may have a role in concomitant atopic disease) 1

Emerging Therapies

• Novel biologics used in other allergic conditions (dupilumab, cendakimab, benralizumab) have shown promise but await further clinical trials 1

Monitoring and Follow-Up

After initiating therapy, perform endoscopy with biopsy while on treatment to assess response, as symptoms may not correlate with histological activity. 1, 3

Monitoring Protocol

• Regular clinic visits to assess symptoms, compliance with therapy, and adverse effects 1, 3
• Repeat endoscopy should be performed no sooner than 4 weeks after the last therapeutic intervention 1
• Histological remission is defined as <15 eosinophils/0.3 mm² for clinical purposes 1
• If symptoms recur while on treatment, repeat endoscopy for assessment and obtain further histology 1

Critical Pitfall to Avoid

Substantial esophageal eosinophilia can persist in asymptomatic or minimally symptomatic patients because they modify their diet to compensate for dysphagia, masking inflammatory activity. 3 Therapeutic evaluation based solely on symptoms without endoscopy and biopsy is limited and often misleading 3

Management of Complications

Fibrostenotic Disease and Strictures

• Endoscopic dilation is effective and safe in patients with fibrostenotic disease, using either balloon or bougie dilators 1
• Clinical outcomes are better if therapeutic dilation is combined with effective anti-inflammatory therapy with topical steroids 1
• Medical treatment with topical steroids likely reduces the development of strictures 1

Esophageal Perforation

• EoE is the most common cause of spontaneous esophageal perforation and can occur at any age 1
• Perform CT contrast study to assess the degree of extravasation 1
• If limited extravasation, manage conservatively with multidisciplinary input from gastroenterology, surgery, and radiology 1

Refractory Disease

• Patients with EoE refractory to treatment and/or significant concomitant atopic disease should be jointly managed by a gastroenterologist and specialist allergist to optimize treatment 1
• Consider esophageal physiological testing in patients with ongoing dysphagia despite histological remission and absence of fibrostenotic disease at endoscopy 1

Long-Term Management Considerations

• Early diagnosis and effective treatment may prevent long-term complications of fibrosis and strictures requiring subsequent endoscopic intervention 1
• Anxiety and depression affect patients due to persistent symptoms and social restrictions and are alleviated by effective therapy 1
• Formal transition of care from pediatric to adult services may improve symptom control, concordance with therapy, and reduce emergency presentations 1