A Rare Cause of Dysphagia: Diagnosis and Treatment

Question: A 55-year-old woman presented to our hospital with intermittent dysphagia for 2 months and progressive dysphagia for 44 days. A preliminary computed tomography scan had been performed at an outside hospital and revealed circumferential thickening of the middle and distal esophageal wall, and no thoracic neoplasm outside of the esophagus. Endoscopy showed no typical findings of eosinophilic esophagitis, such as linear furrows, mucosal rings, small-caliber esophagus, white plaques, and/or exudates, and strictures except for a compressed wall located 25 cm from the incisors (which may be edematous as well), causing greater resistance to passage of the endoscope (Figure A).1Gonsalves N.P. Aceves S.S. Diagnosis and treatment of eosinophilic esophagitis.J Allergy Clin Immunol. 2020; 145: 1-7Abstract Full Text Full Text PDF PubMed Scopus (23) Google Scholar Esophageal high-resolution manometry (HRM) showed impaired relaxation of the esophagogastric junction, and spontaneous spasmatic contraction of the distal esophagus (Figure B and C). However, multiple esophageal mucosal biopsies were performed, and no eosinophilic esophagitis-specific histologic signs (eosinophilic infiltration ≥15/per high-power field) were discovered. Endoscopic ultrasonography (EUS) was performed next to avoid a misdiagnosis. EUS demonstrated obvious circumferential thickening of the middle esophageal muscle and submucosal layer, 25 cm from the incisor teeth with submucosal layer thickness of 4.9 mm (Figure D). Two specimens were then obtained from the middle esophagus using endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA), and H&E staining demonstrated that there was eosinophil infiltration in the esophageal muscle layer with >15 eosinophils per high-power field (Figure E). What is the diagnosis? See the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI. Histologic and endoscopic findings strongly point to eosinophilic esophageal myositis (EoEM). The diagnosis of EoEM is defined as eosinophilic infiltration of the muscularis propria without esophageal motility disorder, clinically manifested by dysphagia and chest pain.2Sato H. Terai S. Eosinophilic esophageal myositis (EoEM) causes jackhammer esophagus, rarely posing a problem in the differential diagnosis of eosinophilic esophagitis.Am J Gastroenterol. 2018; 113: 1263-1264Crossref PubMed Scopus (4) Google Scholar There are several reasons why EoEM is difficult to diagnose. First, it is a rare disease that is rarely encountered by clinicians. Second, its symptoms are not specific, which may lead to a delayed diagnosis or a misdiagnosis, such as gastroesophageal reflux disease or eosinophilic esophagitis.3Furuta G.T. Katzka D.A. Eosinophilic esophagitis.N Engl J Med. 2015; 373: 1640-1648Crossref PubMed Scopus (292) Google Scholar Additionally, it lacks typical endoscopic findings, and routine mucosal biopsies offer limited help in diagnosing the disease. EUS-FNA is commonly performed to diagnose solid tumors of the pancreas, swollen lymph nodes, or solid tumors of the gastrointestinal subepithelial lesions. In contrast to a standard endoscope biopsy, EUS-FNA is beneficial for pathologic diagnosis of gastrointestinal subepithelial lesions. According to previous reports, the majority of patients with EoEM-related jackhammer esophagus were diagnosed using muscle biopsies under peroral endoscopic myotomy rather than EUS-FNA.2Sato H. Terai S. Eosinophilic esophageal myositis (EoEM) causes jackhammer esophagus, rarely posing a problem in the differential diagnosis of eosinophilic esophagitis.Am J Gastroenterol. 2018; 113: 1263-1264Crossref PubMed Scopus (4) Google Scholar In our case, we obtained tissue specimens using EUS-FNA. Therefore, we highly recommend EUS-FNA for the diagnosis of suspected EoEM. Medication, diet, and peroral endoscopic myotomy are important components of the treatment of EoEM. Considering that our patient failed to respond to proton pump inhibitor therapy and that systemic steroids carry significant risks of adverse events, we prescribed a combination of potassium-competitive acid blocker (P-CAB) and swallowed topical corticosteroids. At a telephonic follow-up on November 16, 2021, the patient reported relief of esophageal symptoms after 2 weeks of corticosteroids and P-CAB therapy. At a recent follow-up on April 18, 2022, the patient agreed to undergo HRM and EUS. Endoscopy showed that the esophageal mucosa was smooth and no compressed wall was found 25 cm away from the incisors (Figure F). EUS showed that the thickness of the esophageal wall had significantly decreased, 25 cm from the incisor teeth with submucosal layer thickness of 2.7 mm (Figure G). HRM demonstrated esophagogastric junction outflow obstruction (hypertensive lower esophageal sphincter) (Figure H and I). Our patient had no recurrence during the 6-month follow-up after treatment; her esophageal symptom was significantly relieved and the treatment effect was good. Therefore, we proposed P-CAB in combination with swallowed topical corticosteroids in the treatment of EoEM and demonstrated the feasibility of this treatment regimen during patient follow-up.