Disorders of the Esophagus

Dysphagia is the subjective sensation of difficulty swallowing. Symptoms can range from a complete inability to swallow, to the sensation of solids or liquids becoming “stuck.” Dysphagia is classified as either oropharyngeal or esophageal, with esophageal dysphagia having 2 sub-types: functional and mechanical. Common causes of functional dysphagia include achalasia, scleroderma, and diffuse esophageal spasm (DES). Mechanical causes of dysphagia include esophageal rings, webs, strictures, and cancer. Oropharyngeal dysphagia may be due to structural abnormalities or abnormal neuromuscular function and coordination. The diagnostic workup depends on the patient’s presenting symptoms, but may include manometry, barium esophagram, or direct visualization with nasopharyngeal laryngoscopy or endoscopy. Treatment varies depending on the underlying cause.

The esophagus is a muscular tube-shaped organ of around 25 centimeters in length that connects the pharynx to the stomach. The organ extends from approximately the 6th cervical vertebra to the 11th thoracic vertebra and can be divided grossly into 3 parts: the cervical part, the thoracic part, and the abdominal part. The wall of the esophagus is made up of 4 primary layers: mucosa (lined with squamous epithelium), submucosa, a thicker muscularis layer, and an outer layer of connective tissue. The esophagus also has a sphincter at each end, which allows it to help control the passage of food into the stomach.

Esophageal rupture or perforation is a transmural defect that occurs in the esophagus, exposing the mediastinum to GI content. The most common cause of esophageal perforation is iatrogenic trauma by instrumentation or surgical procedures. Perforation can also be due to foreign body ingestion or non-iatrogenic trauma produced by severe vomiting. Esophageal perforation presents with substernal chest pain that can have a sudden or insidious onset. Diagnosis can be achieved through a CT scan of the chest and neck, chest X-ray, or esophagogram. Management commonly includes surgical repair of the transmural esophageal defect. However, conservative therapy may also be considered for a hemodynamically stable patient with a minor defect. The main complication of esophageal perforation is acute mediastinitis. The mortality rate can range from 10%–50%.

Gastroesophageal reflux disease (GERD) occurs when the stomach acid frequently flows back into the esophagus. This backwash (acid reflux) can irritate the lining of the esophagus, causing symptoms such as retrosternal burning pain (heartburn). This condition may eventually lead to inflammation (esophagitis), metaplasia (Barrett’s esophagus), and progression to esophageal cancer. Uncomplicated GERD can be managed with lifestyle changes and over-the-counter medications. Sometimes, however, stronger medications or surgery may be required to ease symptoms and prevent complications.

Esophagitis is the inflammation or irritation of the esophagus. The major types of esophagitis are medication-induced, infectious, eosinophilic, corrosive, and acid reflux. Patients typically present with odynophagia, dysphagia, and retrosternal chest pain. Diagnosis is by endoscopy and biopsy. Laboratory tests and imaging are obtained, depending on the degree of damage and involvement of other organ systems. Treatment for esophagitis depends on the underlying etiology and includes dietary changes, avoidance of offending agents, antibiotic therapy, or proton pump inhibitor use. In severe cases such as in corrosive injury, surgery may need to be performed. If left untreated, esophagitis can lead to complications such as strictures, metaplasia of the esophagus, and development of malignancy.

Esophageal atresia is a congenital anomaly in which the upper esophagus is separated from the lower esophagus and ends in a blind pouch. The condition may be isolated or associated with tracheoesophageal fistula, which is an abnormal connection between the trachea and esophagus. The most common congenital tracheoesophageal abnormality is a combination of esophageal atresia and distal tracheoesophageal fistula. The defect manifests early after birth as an inability to feed, regurgitation, choking, and aspiration, and requires surgical correction. Survival is good, but long-term complications are common.

Esophageal cancer is 1 of the most common causes of cancer-related deaths worldwide. Nearly all esophageal cancers are either adenocarcinoma (commonly affecting the distal esophagus) or squamous cell carcinoma (affecting the proximal two-thirds of the esophagus). Major risk factors for adenocarcinoma include smoking, obesity, and Barrett’s esophagus. For squamous cell carcinoma, risk factors include smoking, alcohol consumption, and certain dietary factors. Early-stage cancer is often asymptomatic, with dysphagia and weight loss presenting as the disease progresses. Diagnosis is by endoscopic biopsy or image-guided biopsy of the metastatic site. Management depends on the disease stage. Options include surgical resection, chemotherapy, and radiation. For unresectable esophageal cancers, palliative measures are provided for symptom relief and to prolong survival.