Esophageal Achalasia diagnosed by Nuclear Gastric Emptying Scintigraphy

Abstract

Purpose: Achalasia is a disease that is caused by a loss of normal relaxation of the lower esophageal sphincter (LES) and lack of esophageal peristalsis. Symptoms on presentation can vary but usually consist of dysphagia to liquids and solids, regurgitation, chest pain, heartburn, and weight loss. Diagnosis is usually suspected on barium esophagography or upper endoscopy but confirmed by esophageal manometry. Case Report: 22 yo female five months post-partum, complained of worsening heartburn and postprandial nausea and regurgitation. Her heartburn worsened during her pregnancy, and she denied dysphagia. Since her pregnancy she had lost 45 lbs. Two months prior to presentation she had been having worsening nausea and regurgitation and was only able to tolerate Ensure. She was hospitalized multiple times for dehydration. Outside evaluation included an EGD revealing Candida esophagitis, and a CT scan and RUQ ultrasound were both normal. A gastric emptying scan (GES) was attempted but the patient vomited the meal within 30 minutes. Trials of promethazine and Zofran did not help her symptoms. She was then referred to WFUBMC for further evaluation of unexplained nausea and weight loss. Because of the persistent nausea, gastroparesis was a concern so a GES was repeated and showed after 120 minutes that the entire radiolabelled meal was still retained in the esophagus. This raised the possibility of a diagnosis of achalasia. An esophagram showed a dilated mid/proximal esophagus with a symmetrical tapered narrowing of the distal esophagus. Esophageal manometry showed a hypertensive LES at 47 mmHg, residual LES pressure of 17 mmHg, and absence of primary peristalsis after all wet swallows, confirming a diagnosis of achalasia. Treatment was a laparoscopic Heller myotomy and a Dor fundoplication. At 1 month follow her symptoms had resolved and she regained 10 lbs. Discussion: Many patients with achalasia have nonspecific symptoms at presentation and thus often go misdiagnosed for an extended period of time. In our case, the patient was primarily complaining of nausea and regurgitation so an underlying gastric motility disorder was considered the most likely cause. However, a GES indicated a diagnosis of esophageal achalasia which was later confirmed with further testing.