Hypertrophic Esophageal Myopathy (Hem), a New Entity

Abstract

Purpose: Esophageal dysmotility disorders include Achalasia, Diffuse Esophageal Spasm, Nutcracker Esophagus, Hypertensive LES and Impaired LES relaxation. Each having its own diagnostic criteria. Little information has been published regarding the natural history and thickness of the muscle layers in each pathology. Some have hypothesized about distal obstruction in achalasia producing thickening of the muscle. However marked esophageal muscle thickening has not been described in a patient with abnormal esophageal manometry and a patent LES. The purpose of this case report is to describe a new entity of Hypertrophic Esophageal Myopathy (HEM) which is characterized by marked esophageal muscle thickening with abnormal motility and a patent LES. Methods: Clinical case presentation with subsequent literature review. Results: Case report: A 27 year old Black woman with a 9 year history of atypical chest pain, initially not associated with eating. In the prior year, her symptoms have progressed to develop solid food dysphagia, with regurgitation of food, not relieved with proton pump inhibitors. A barium esophagram demonstrated a dilated esophagus, lack of peristaltic movement, distal esophageal narrowing, although not in a classic bird's beak appearance. An esophageal manometry revealed low amplitude simultaneous contractions without evidence of peristalsis. LES pressures were unable to be obtained due to coiling of the probe. EGD demonstrated a wide open LES, distal esophagitis and, a distal esophageal ulcer. CT Chest showed a tortuous dilated esophagus with a markedly thickened wall with a maximum thickness of 4 cm. EUS was performed and showed a thickened esophagus extending from above the Z line to the mid esophagus, with a maximum thickness of 28 mm. An FNA specimen obtained via EUS, demonstrated (+) for caldesmon and (−) for C-Kit consistent with hypertrophied muscularis. The patient was started on a calcium channel blocker (CCB) with significant improvement of her symptoms. Conclusion: Idiopathic hypertrophic myopathies are known to affect the cardiac muscle (hypertrophic obstructive cardiomyopathy) and pylorus (infantile hypertrophic pyloric stenosis). We describe a patient with evidence of marked esophageal muscular hypertrophy and dysmotility. The finding of a patent LES in our patient makes achalasia an unlikely diagnosis. However, this may represent a variant of achalasia yet to be described. We therefore conclude with the description of a new entity which we refer to as Hypertrophic Esophageal Myopathy (HEM), which in our patient presented with dysphagia that responded to calcium channel blockers. This will hopefully attract interest and further research in the field.