A 54-year old male was referred to our clinic for the evaluation of a 2 years history of intermittent progressive dysphagia for solids and liquids. He reported dysphagia for solids with the sensation of food getting stuck in the mid esophagus and regurgitation when drinking rapidly on several occasions on 3-4 days per week. He denied chest pain, heartburn or weight loss.
The patient's past medical history included surgery for a herniated disc L5/S1 more than 20 years ago with re-operation 3 years later and treatment with isoretinoin 10 years ago for acne. A trial of PPI therapy for one month did not relieve symptoms. At the time of the consultation he had not taken any medications.
Prior to being referred to our clinic the patient underwent an upper gastrointestinal endoscopy, with unremarkable findings both macroscopic and on esophageal biopsies. A barium esophagogram revealed a delayed passage of contrast media to the stomach and a dilated distal esophagus with an irregularity in the esophago-gastric junction (EGJ) (Figure 1). Due to this irregularity of the EGJ he underwent an endoscopic ultrasound (EUS) exam of the esophagus that revealed a thickened lower esophageal sphincter with small calcifications of the mucosa and no evidence of malignoma or extrinsic compression of the esophagus.
The next diagnostic step was a high-resolution esophageal manometry (HRM) which revealed a lower esophageal sphincter resting pressure just above the upper limit of normal (average LES-resting pressure 46mmHg; normal 10-45 mmHg) with inadequate relaxation characterized by an elevated integrated relaxation pressure (IRP4s) (average 20.2 mmHg; normal <15 mmHg). In addition, the contraction pattern of the tubular esophagus found a segmental aperistalsis in the distal esophoagus from 6 cm above to the LES with a normal distal latency (DL) (average DL 5.85s; normal >4.5s). The HRM contraction patterns are depicted in Figure 2.
We interpreted the segmental aperistalsis of the distal esophagus associated with the inadequate relaxation of the hypertensive LES and the radiologic findings as an incomplete resp. early form of "segmental" achalasia but, given the calcifications in a thickened LES, we included in the differential diagnosis the possibility of secondary outflow obstruction due to a peptic stenosis. Consequently, we offered the patient the option of a dilatation with Savary bougies 15-18 mm, which was accepted and performed. This intervention improved the symptoms only for a few days, and at the follow-up visit 4 weeks after the Savary dilatation he continued to report dysphagia for solids and liquids, thoracic pain twice a month and regurgitation monthly.
The symptoms slowly progressed and further therapeutic options were discussed with the patient along the concept of a focal form of achalasia. As he was concerned of the risks of pneumatic dilatation (PD), per oral endoscopic myotomy (POEM) and surgery, he decided for botulinum toxin injections, 25IE botulinum toxin to each quadrant of the LES. A few days after the intervention the patient reported a complete resolution of his symptoms. The high-resolution esophageal manometry measurements 6 weeks after BoTox injection found a near normal relaxation of the LES but still simultaneous contractions from the mid to the distal esophagus with a normal DL (Figure 3).
Twenty-two months later the patient presented back with dysphagia, thoracic pain and regurgitation, but no weight loss. This time, the HRiM revealed an insufficient relaxation of the LES (residual pressure 22 mmHg, IRP4s 21.4 mmHg) and complete aperistalsis indicated by simultaneous contractions of the whole esophagus. The criteria proposed by the Chicago classification for achalasia type III were met (Figure 4). The barium esophagram showed a similar picture as the previous examination, with narrowing of the EGJ and a dilated esophagus (Figure 5). The patient was still worried about the risks of pneumatic balloon dilatation, POEM and surgery and, given the good initial response, he opted for repeated botulinum toxin injection, which led to a complete remission of esophageal symptoms for one year. As symptoms recurred, the patient agreed for a pneumatic balloon dilatation with 30 mm balloon and remained free of dysphagia until present.