A 38-year-old woman comes to the office due to increasing episodes of nausea and substernal discomfort over the past several months. The episodes frequently occur after eating, and the patient occasionally self-induces vomiting to relieve the symptoms. Two weeks ago, she also had difficulty swallowing while experiencing a sensation of food getting stuck in her chest. She has had no anorexia, weight loss, hematemesis, or melena. The patient had gastroesophageal reflux during pregnancy 10 years ago but no other medical conditions. She takes no medications, does not smoke cigarettes, and drinks alcohol occasionally. Vital signs are within normal limits. BMI is 32.5 kg/m2. Physical examination shows a normal oropharynx and a nontender abdomen. Chest imaging reveals a retrocardiac air-fluid level. Which of the following is the most likely underlying cause of this patient's current symptoms?
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This patient with nausea, dysphagia, chest pain, and a retrocardiac air-fluid level on chest imaging likely has a paraesophageal hiatal hernia (PEH).
Hiatal hernias occur when intraabdominal organs protrude into the thoracic cavity. Most (>90%) hiatal hernias are sliding hernias, which occur when the gastroesophageal junction and proximal stomach slide into the chest. Sliding hernias are usually asymptomatic or result in reflux symptoms (eg, heartburn).
In contrast, PEHs occur when the gastric fundus migrates into the thoracic cavity; larger defects can result in the subsequent herniation of the surrounding stomach and intraabdominal organs (eg, bowel, spleen). This results in compression of the stomach and surrounding organs (eg, esophagus, lungs), leading to more severe symptoms. Common manifestations include nausea and vomiting, postprandial fullness, dysphagia, and epigastric and/or chest pain. As the stomach advances into the thoracic cavity, there is risk of respiratory compromise and gastric volvulus.
The presence of a retrocardiac air-fluid level (due to the stomach bubble within the thoracic cavity) suggests a PEH, although it may also be seen in sliding hernias. The diagnosis is confirmed with barium swallow or upper endoscopy. Whereas symptomatic sliding hernias are generally managed with medical treatment of reflux symptoms, PEHs often require surgical repair.
(Choice A) Achalasia results from the degeneration of esophageal ganglion cells, leading to tonic contraction of the lower esophageal sphincter (LES). Patients have dysphagia, but regurgitation of undigested food is typical. In addition, retrocardiac air-fluid levels would not occur.
(Choice B) Barrett esophagus is characterized by intestinal metaplasia, which can become dysplastic and progress to esophageal adenocarcinoma. Although hiatal hernias increase the risk for this condition because of recurrent gastroesophageal reflux, Barrett esophagus itself does not cause dysphagia or a retrocardiac air-fluid level.
(Choice D) Laxity of the LES can predispose to gastroesophageal reflux, which can cause chest discomfort and nausea but also typically results in heartburn and regurgitation of acidic material. However, a retrocardiac air-fluid level would be unexpected.
(Choice E) Weakness of the pharyngeal constrictor muscles in Killian triangle results in Zenker diverticulum. Although this causes oropharyngeal dysphagia, it is much more common in the elderly and typically associated with halitosis. Air-fluid levels may be present in the diverticulum (located in the upper esophagus), not the thoracic cavity.
Educational objective:
Paraesophageal hiatal hernias occur when the gastric fundus migrates into the thoracic cavity; large defects can result in herniation of the surrounding stomach and intraabdominal organs. Manifestations include nausea and vomiting, postprandial fullness, dysphagia, and epigastric and/or chest pain. Chest imaging typically reveals a retrocardiac air-fluid level within the thoracic cavity.