A 32-year-old man comes to the office due to intermittent dysphagia for solids and liquids. He has no significant past medical history and does not use tobacco, alcohol, or illicit drugs. His father has a history of esophageal squamous cell carcinoma. Physical examination is unremarkable. The patient undergoes an esophageal manometric study that demonstrates periodic, simultaneous, and non-peristaltic contractions of large amplitude and long duration. Which of the following is the most likely pathogenesis of this patient's esophageal condition?

Question

A 32-year-old man comes to the office due to intermittent dysphagia for solids and liquids.  He has no significant past medical history and does not use tobacco, alcohol, or illicit drugs.  His father has a history of esophageal squamous cell carcinoma.  Physical examination is unremarkable.  The patient undergoes an esophageal manometric study that demonstrates periodic, simultaneous, and non-peristaltic contractions of large amplitude and long duration.  Which of the following is the most likely pathogenesis of this patient's esophageal condition?

Quizplus · Accepted Answer

11ec160b_393f_8ced_9249_e9c8e04509f9_MD0001_00 This patient's presentation is consistent with diffuse esophageal spasm (DES). Esophageal contractions are normally stimulated by esophageal distension from a food bolus. The contractions originate above the site of distension and propel the bolus downward in a coordinated fashion. In DES, several segments of the esophagus contract inappropriately at the same time, which appears as disorganized non-peristaltic contractions on esophageal manometry and "corkscrew" esophagus on barium esophagogram. Because the food bolus is inefficiently propelled toward the stomach, patients typically present with intermittent solid/liquid dysphagia, chest pain, heartburn, and food regurgitation. The pathogenesis of DES likely involves impaired inhibitory neurotransmission within the esophageal myenteric plexus. (Choice A) Patients with sliding hiatal hernia often develop symptoms of gastroesophageal reflux (eg, heartburn, regurgitation, dysphagia) due to anatomic disruption of the gastroesophageal junction and impaired esophageal acid clearance. However, esophageal manometry is typically normal. (Choice B) Eosinophilic esophagitis typically presents in atopic patients with solid food dysphagia and/or food impaction. Findings on esophageal manometry are nonspecific. (Choice D) Zenker's diverticulum is a mucosal outpouching through an area of muscle weakness located in the wall of the hypopharynx (Killian triangle). The condition typically presents in elderly men with dysphagia, foul breath (halitosis), and food regurgitation. (Choice E) Esophageal cancer typically presents with progressive solid food dysphagia and unintentional weight loss. Risk factors for squamous cell carcinoma include alcohol and tobacco use, whereas risk factors for adenocarcinoma include Barrett's esophagus, gastroesophageal reflux disease, smoking, and obesity. (Choice F) Systemic sclerosis may involve the lower two-thirds of the esophagus, resulting in smooth muscle atrophy and gut wall fibrosis. Patients can develop dysphagia with acid reflux; however, manometry typically shows absent peristaltic waves with decreased lower esophageal sphincter tone. Educational objective: Diffuse esophageal spasm is characterized by periodic, simultaneous, and non-peristaltic contractions of the esophagus due to impaired inhibitory innervation within the esophageal myenteric plexus. Patients typically present with liquid/solid dysphagia and chest pain due to inefficient propulsion of food into the stomach. __________ References: Distal esophageal spasm: an update. (http://www.ncbi.nlm.nih.gov/pubmed/23892829) Distal esophageal spasm. (http://www.ncbi.nlm.nih.gov/pubmed/22215281)

A 32-Year-Old Man Comes to the Office Due to Intermittent