Dartmouth-Hitchcock Medical Center Lebanon, NH, United States
Award: ACG Case Reports Journal Award (Trainee)
Award: Presidential Poster Award
Jamie Horrigan, MD1, Dmitriy Kedrin, MD, PhD2, Stuart Gordon, MD1, B. Fernando Santos, MD, FACS1, Heiko Pohl, MD, MPH3 1Dartmouth-Hitchcock Medical Center, Lebanon, NH; 2Elliot Health System, Manchester, NH; 3White River Junction VA Medical Center, White River Junction, VT
Introduction: Idiopathic muscular hypertrophy of the esophagus (IMHE) is a rare condition of unknown etiology, characterized by diffuse esophageal thickening of benign smooth muscle and progressive dysphagia. Treatment options include esophageal dilation, myotomy, and esophageal resection. So far, < 100 cases have been described in the literature.
Case Description/Methods: A 55-year-old male presented with 9 months of progressive dysphagia to solids, nausea, and vomiting with meals. The patient tolerated a soft diet but lost >20% body weight during this time.
EGD revealed a normal esophageal epithelium with moderate stenosis extending from 32cm to the gastroesophageal junction (GEJ) at 41 cm. The stenosis was dilated to 16mm with Savary dilators without improvement in symptoms. Esophageal biopsies were unremarkable. To evaluate for extrinsic compression, CT scan was performed, revealing diffuse thickening of the distal esophageal wall with proximal dilation and complete luminal effacement of the GEJ. High resolution manometry showed esophagogastric junction outflow obstruction (EGJOO). Due to concerns for malignancy/infiltrative disease, EGD/EUS was performed, revealing normal proximal esophageal wall layers with progressive thickening of the muscularis propria (circular layer) starting at 27cm, reaching full thickness at 32cm. To secure sufficient tissue, biopsies were obtained after submucosal dissection and exposure of the muscularis propria, revealing normal muscle tissue.
After a multidisciplinary discussion, the patient was offered peroral endoscopic myotomy (POEM) via an anterior approach. Following a mucosotomy at 23cm, a submucosal tunnel was created past the GEJ. Myotomy of the circular muscle layer was then performed from 27cm extending 3cm past the lower esophageal sphincter. An extremely thick circular esophageal muscle layer was apparent, while the longitudinal muscle fibers appeared normal. No adverse events occurred. Following recovery, the patient experienced complete resolution of symptoms (one year of follow up).
Discussion: This is first case to our knowledge reported in the literature of IMHE treated with POEM. The diagnosis is made after excluding other etiologies such as achalasia, EGJOO, connective tissue disorders, or malignancy. Submucosal dissection with exposure of the muscularis propria may facilitate adequate tissue sampling. Historically, esophageal resection has been performed in severe cases. POEM may offer a minimally invasive and effective treatment for IMHE.
Figure: Figure 1. (A) CT showed thickening of the distal esophagus, complete luminal effacement of the GE junction (arrow), and diffuse esophageal dilation. (B) High resolution esophageal manometry was significant for esophagogastric junction outflow obstruction (EGJOO) with diffuse esophageal spasm and significant delay of bolus clearance with both wet and viscous swallows. Mean integrated relaxation pressure (IRP) was slightly elevated at 18.3 mm Hg. (C) Endoscopic ultrasound revealed diffuse wall thickening of the lower half of the esophagus starting at 27cm, reaching maximum thickness at 32cm (arrow). This was primarily due to thickening of the muscularis propria (circular layer). The thickest muscularis propria layer was ~9mm with the entire esophageal wall measuring ~12mm in thickness.
Disclosures: Jamie Horrigan indicated no relevant financial relationships. Dmitriy Kedrin indicated no relevant financial relationships. Stuart Gordon: Boston Scientific – Consultant. B. Fernando Santos: Boston Scientific – Consultant. Cook Medical – Consultant. Heiko Pohl: Cosmo – Grant/Research Support. Steris – Grant/Research Support.
Jamie Horrigan, MD1, Dmitriy Kedrin, MD, PhD2, Stuart Gordon, MD1, B. Fernando Santos, MD, FACS1, Heiko Pohl, MD, MPH3. P2439 - Diffuse Severe Idiopathic Muscular Hypertrophy of the Esophagus (IMHE) Treated With Peroral Endoscopic Myotomy (POEM), ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.
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