Esophageal perforation was first described in 1724 by the Dutch physician Hermann Boerhaave, who published the presentation, clinical course, and autopsy findings of spontaneous rupture of the esophagus in his patient Lord van Wassenaer, High Admiral of the Dutch Navy. In this seminal work, he described the clinicopathologic correlation between esophageal perforation and a fatal outcome, one that remained inevitable for over 200 years. Despite modern surgical techniques, perforation of the esophagus still represents a true surgical emergency. In the mid-20th century, successful primary repair of esophageal perforation was first reported by Barrett in 1946 and later by Olsen and Claggett in 1947, and esophagectomy for esophageal perforation was described by Satinski and Kron in 1952, all of which led the way to the modern treatment of these injuries.^1–4 Although spontaneous esophageal rupture is uncommon today, the dramatic increase in the use of invasive procedures for the diagnosis and treatment of gastrointestinal diseases has resulted in a significant increase in the incidence of esophageal perforation.

The esophagus is prone to rupture by various mechanisms due to the lack of an enveloping serosal layer. As a consequence of its location, perforation of the esophagus can rapidly develop into a fatal disease process unless a prompt diagnosis is made and proper treatment is initiated immediately. Following perforation, the negative intrathoracic pressure pulls esophageal and gastric contents into the mediastinum. Oral bacteria present in saliva as well as digestive enzymes, acidic gastric secretions, and bile produce a chemical burn that can lead to a necrotizing superinfection of adjacent mediastinal and upper abdominal organs. This combination of insults leads to a severe local inflammatory response and if left untreated, eventually develops into systemic sepsis.

Epidemiology

The incidence of esophageal perforation in the United States is estimated to be 3 per 100,000 people.⁵ The most common location for perforation is in the intrathoracic esophagus (54 percent), followed by the cervical esophagus (27 percent) and intra-abdominal esophagus (19 percent).⁵ A recently published analysis of modern series of over 500 patients with esophageal perforations identified iatrogenic injuries as the most common cause of esophageal perforation (59 percent), followed by spontaneous perforation (15 percent), ingestion of foreign bodies (12 percent), trauma (9 percent), operative injuries (2 percent), malignancy (1 percent), and other causes (2 percent).⁶ A relationship between cause and location exists (Fig. 15-1).

Etiology

Perforation of the esophagus can be divided into intraluminal or extraluminal causes.

Intraluminal Causes

Instrumental Injuries.

Iatrogenic perforations account for the majority of esophageal perforations and can occur during routine diagnostic endoscopy, therapeutic dilatation, stent placement, enteral tube passage, or endoscopic ultrasound or echocardiography. The actual risk of perforation during routine endoscopy alone is quite low and is estimated to be 0.11 percent with traditional rigid esophagoscopes and even lower (0.03 percent) with modern flexible endoscopes.⁶ Nevertheless, the risk of perforation increases considerably with therapeutic intervention and ranges from 0.3 percent after balloon dilatation to 25 percent after palliative stent placement for malignancy.^7,8 In the absence of a diseased esophagus, iatrogenic injuries occur most commonly in Killian’s triangle, which is formed by the inferior pharyngeal constrictor and the cricopharyngeus muscles, but perforation of the esophagus also occurs at areas of normal anatomic narrowing, such as the distal esophagus just proximal to the gastroesophageal junction and the impingement of the aortic arch and left mainstem bronchus.⁹

Foreign Bodies.

Nearly all objects (80–90 percent), especially those less than 2 cm in size, will typically be able to pass through a nonpathologic esophagus and the remainder of the gastrointestinal tract without difficulties.^10,11 Objects with sharper edges (e.g., chicken or fish bones, nails, razor blades, safety pins, etc.), or those of larger size (e.g., coins) can, however, cause acute perforation in areas of anatomic esophageal narrowing. This occurrence is more common in children and those with concomitant psychiatric illness, and is often associated with a delay in diagnosis that can lead to the development of mediastinal abscess or empyema.

Chemically Induced Perforation.

Prior to the widespread availability of proton pump inhibitors, reflux esophagitis with esophageal ulcer was a relatively common cause of esophageal perforation. Currently, reflux disease alone rarely leads to perforation of the esophagus. Today, ingestion of caustic alkaline or acidic materials is the most common form of chemical injury and often occurs intentionally by suicidal adults or accidentally by young children. Severity of injury is dependent on both the type and the concentration of the caustic agent as well as the length of time in contact with the esophageal mucosa.¹² Severe chemical insults resulting in perforation typically occur several days after ingestion, following necrosis and as the injured esophagus attempts repair of the damage from the offending agent.¹³ Chemical damage with subsequent perforation following the retention of pills in the esophagus and delayed entry into the stomach has been reported for various pharmaceutical agents such as aspirin/NSAIDs, bisphosphonates, and antibiotics/antivirals.¹⁴

Esophageal Carcinoma.

Perforation in patients with esophageal cancer is typically secondary to instrumentation, but can also occur spontaneously with locally advanced tumors. The prognosis of these patients is grim and mortality from this condition approaches 50 percent.¹⁵

Infection.

Severe esophageal infections with human immunodeficiency virus (HIV), herpes simplex virus (HSV), cytomegalovirus (CMV) Candida species, and tuberculosis, typically in immunocompromised patients, all have been reported to cause esophageal perforation.¹⁶

Spontaneous Perforation (Boerhaave Syndrome and Barotraumas).

Perforation of the esophagus may be related to a rapid increase in intraluminal pressure (e.g., emesis, coughing, weight lifting, seizures). If the upper esophageal sphincter fails to relax, the increase in intra-abdominal pressure may lead to a tremendous pressure rise within the esophagus, resulting in perforation. When the perforation due to a rise in intra-abdominal pressure is postemetic in nature, the condition is known as Boerhaave syndrome and typically occurs in the distal third of the esophagus on the left.¹⁷

Extraluminal Causes

Traumatic Injuries.

Esophageal perforation from penetrating thoracic trauma typically involves the cervical esophagus and is rarely fatal by itself.¹⁸ Esophageal perforation secondary to blunt trauma is rare, but can occur secondary to compression of the esophagus between the sternum and spine in motor vehicle accident.¹⁹

Operative Injuries.

Perforation of the esophagus has been reported with pulmonary resections, atrial operations, thoracic aortic aneurysm repair, mediastinoscopy, operations on the anterior cervical spine, laparoscopic fundoplication or myotomy procedures, and even thyroid surgery.⁶

The diagnosis of esophageal perforation may be suspected from the patient’s clinical history as often an antecedent episode of vomiting, or recent instrumentation can be elicited from patients with esophageal perforation. The clinical presentation of esophageal perforation depends on three factors: location, degree of containment, and time elapsed since injury. The differential diagnosis includes myocardial infarction, peptic ulcer disease, pancreatitis, aortic dissection, spontaneous pneumothorax, and pneumonia.

Physical examination findings may include fever, tachycardia, hypotension, tachypnea, and other end-organ manifestations of sepsis. Local tenderness is associated with an upper esophageal perforation and peritonitis with an abdominal esophageal perforation. There may be crepitus present. Among patients with esophageal injuries, pain is the most frequently reported symptom (71 percent), followed by fever (51 percent), dyspnea (24 percent), and crepitus (22 percent).²⁰ The classical association of vomiting, lower chest pain, and subcutaneous emphysema (Mackler triad) is only found in half of the patients with esophageal perforation.²¹

Cervical perforation typically presents with cervical pain, odynophagia, and subcutaneous emphysema with neck tenderness and crepitus on palpation. Iatrogenic perforation usually presents shortly after the procedure, with dysphagia, pain, tachycardia, and fever. If left untreated, this progresses to hypoxia, sepsis, and shock. Spontaneous esophageal rupture or Boerhaave syndrome occurs more commonly outside the hospital setting. The typical patient is an elderly male with a history of recent emesis. These patients tend to present late and have a worse prognosis. Intra-abdominal perforations usually present with abdominal tenderness or frank peritonitis and rapidly deteriorate into septic shock.

Evidence of esophageal perforation is present on 90 percent of plain-film radiographs, and findings include pneumomediastinum, subcutaneous emphysema, hydrothorax, pneumothorax, or hydropneumothorax, and subdiaphragmatic air.²² These findings may not be present early after injury. The diagnosis is usually confirmed with an esophagogram with water-soluble (e.g., Gastrografin) contrast, which will demonstrate the leak in 50 percent of cervical and 75 to 80 percent of thoracic perforations (Figs. 15-2 to 15-4).²³ If there is no demonstration of extravasation of water-soluble contrast and the suspicion of esophageal perforation remains high, an esophagram with thin barium contrast should be performed as nearly one-quarter of patients with a negative Gastrografin esophagram are found to have a positive barium swallow study.⁵ Barium has been shown to be able to detect up to 60 percent of cervical and up to 90 percent of intrathoracic esophageal perforations.⁶ Such studies should be performed with the patient in the right lateral decubitus position so as to avoid rapid transit of contrast into the stomach, in which case a small leak may be missed. Esophagrams may have to be repeated in the face of negative Gastrografin and barium studies if the diagnosis of esophageal perforation remains likely.