Gastrointestinal: Esophageal Achalasia With Unusual Endoscopic Findings

Abstract

A 61-year-old male patient presented to our hospital with dysphagia, chest pain, and weight loss of 4 kg over the past 3 months, with no regurgitation. He had been receiving medical treatment for hypertension, dyslipidemia, and hyperuricemia. He was administered a calcium channel blocker (amlodipine 5 mg) for the management of hypertension. He reported no history of allergies, smoking, surgeries, or endoscopic interventions such as balloon dilation, and he had occasional alcohol consumption.

Esophagogastroduodenoscopy revealed circumferential erythematous changes at gastric folds and the squamocolumnar junction (SCJ) of the esophagus with passage resistance through a narrow distal segment and no hiatal hernia (Figure 1a–c). Biopsies of the mucosa revealed no malignant findings. Laboratory examinations, including tumor markers, revealed no apparent abnormalities, and computed tomography (CT) did not reveal any obvious neoplastic lesions. A positron emission tomography (PET) revealed no abnormal accumulation. Proton pump inhibitor was prescribed considering the possibility of gastroesophageal reflux disease (GERD), but symptoms showed no improvement. Barium esophagram revealed a narrow distal segment and dilation of 4 cm in transverse diameter, indicating barium outflow obstruction (Figure 1d). High-resolution manometry (HRM) (Starlet system, Star Medical, Tokyo, Japan) demonstrated an integrated relaxation pressure of 26.2 mmHg with panesophageal pressurization (Figure 1e).

The endoscopic findings showed features not typically seen in classical achalasia. Although there were no elevated tumor markers and CT or PET scans did not reveal any obvious masses, the rapid progression of symptoms necessitated ruling out a malignant tumor that progresses diffusely in the submucosa, known as pseudoachalasia. Bite-on-bite biopsies performed during a subsequent endoscopic examination ruled out malignant pseudoachalasia with negative results. Based on these results, a diagnosis of Type 2 esophageal achalasia (Chicago Classification v3.0), characterized by gastric folds and visible SCJ, was established.

Peroral endoscopic myotomy (POEM) was performed after discussing potential postprocedural complications, such as GERD, with the patient. The POEM was successfully performed without any complications, with myotomy of 3 cm on the gastric side. Two months after POEM, the patient's Eckardt score improved from 7 to 0. Although GERD-related symptoms were very mild, endoscopic examination revealed severe erosions, which were effectively managed with esomeprazole 20 mg daily. The patient has been under continuous follow-up for 7 years and remains in remission, with no recurrence of symptoms to date (Figure 2a–c).

Esophageal achalasia is a rare disorder characterized by impaired relaxation of the lower esophageal sphincter (LES). This case exhibited impaired relaxation at the upper margin of the gastric folds rather than the LES, with a clearly visible SCJ, presenting uncommon findings in achalasia. Typical endoscopic findings, including esophageal rosette [1] and champagne-glass sign [2], have been reported, but these were not observed. In this case, we could not find any reports of achalasia presenting with endoscopic findings. The findings presented in this case are likely identifiable only through endoscopy.

Additionally, the patient experienced symptom progression and weight loss over a short period. Therefore, the exclusion of malignancy, including malignant pseudoachalasia, was crucial. Approximately 70% of pseudoachalasia cases are malignant [3] and can present with endoscopic, esophagram, and HRM findings similar to this case. It is frequently a rapidly progressive condition that requires prompt attention and early accurate diagnosis. It is crucial to acknowledge that there are instances of esophageal achalasia exhibiting uncommon endoscopic findings, such as those observed in this case, even though they are rare.

Informed consent was obtained from the patient to publish this case report and accompanying images.

H.I. is an advisor of Olympus Corporation and Top Corporation and has received educational grants from Olympus Corporation and Takeda Pharmaceutical Co. The other authors declare no conflicts of interest.