Boerhaave syndrome is a spontaneous, full-thickness tear of the esophagus (transmural perforation) that represents a catastrophic medical emergency. This rare, life-threatening condition involves all layers of the esophageal wall, distinguishing it from less severe esophageal tears. It demands immediate and aggressive medical intervention to prevent severe complications. The mortality rate can approach 100% without treatment, underscoring the critical nature of rapid diagnosis and management.
Understanding the Rupture: Mechanism and Causes
The rupture in Boerhaave syndrome is primarily a consequence of a sudden spike in pressure within the esophagus, most often triggered by severe retching or forceful vomiting. The physical mechanism involves a failure of the cricopharyngeus muscle, the upper esophageal sphincter, to relax adequately.
When the upper sphincter fails to open, the contents are forcefully trapped between the closed sphincter above and the diaphragm below. This immense trapped pressure causes a sudden, longitudinal, transmural tear. The tear most commonly occurs on the left posterolateral wall of the lower third of the esophagus, just above where it joins the stomach.
While forceful vomiting is the most frequent cause, the syndrome has also been linked to other activities involving severe straining, such as heavy lifting, seizures, or even childbirth. Consumption of large amounts of food or alcohol is a recognized risk factor, as it often precedes the intense emesis that precipitates the perforation. This spontaneous rupture must be differentiated from iatrogenic perforations caused by medical procedures like endoscopy.
Key Symptoms and the Diagnostic Challenge
The classic presentation of Boerhaave syndrome is characterized by Mackler’s triad: severe chest pain, vomiting, and subcutaneous emphysema. The pain is often described as excruciating and sudden, frequently localizing to the chest and upper abdomen, and may radiate to the back or shoulder. This severe pain is the primary reason the condition is often mistakenly diagnosed as a myocardial infarction (heart attack).
The chest pain is quickly followed by the leakage of acidic stomach contents and air into the chest cavity, leading to profound distress. These contents contaminate the mediastinum, the central compartment of the chest, which rapidly leads to a severe infection called mediastinitis. Subcutaneous emphysema, the presence of air trapped under the skin, is the third element of the triad and causes a crackling sensation upon touch.
Despite being the classic description, the complete Mackler’s triad is only present in a minority of cases, estimated to be between 14% and 25% of patients. This variability significantly complicates the diagnostic process and contributes to dangerous delays in treatment. Other non-specific symptoms, such as fever, rapid heart rate, and difficulty breathing, further mimic other acute conditions, requiring a high degree of suspicion for diagnosis.
Emergency Confirmation and Initial Medical Steps
Emergency confirmation of the esophageal tear must be rapid due to the time-sensitive nature of the condition. Initial stabilization focuses on immediate volume resuscitation with intravenous fluids and the administration of broad-spectrum antibiotics to combat contamination and infection of the chest cavity. The patient is also kept nil per os (nothing by mouth) to prevent further leakage through the defect.
Definitive diagnosis relies on specialized imaging techniques to visualize the leak. A contrast esophagram, often called a swallow study, is a procedure where the patient swallows a contrast agent that outlines the esophagus. The contrast agent will be seen leaking out of the esophageal wall at the site of the perforation, confirming the diagnosis.
While a traditional fluoroscopic esophagram is highly effective, a computed tomography (CT) scan complemented by oral contrast, known as a CT esophagram, is increasingly used. The CT esophagram is advantageous because it quickly identifies suggestive signs like air surrounding the esophagus (pneumomediastinum) and fluid collections in the chest. It also helps rule out other causes of chest pain. Water-soluble contrast is preferred initially to avoid the inflammatory reaction caused by barium contrast if it leaks into the mediastinum.
Surgical Repair and Management
Immediate surgical intervention is the primary treatment for Boerhaave syndrome. The goal of surgery is to repair the transmural esophageal tear and thoroughly clean the contaminated chest cavity. A left thoracotomy, which involves opening the chest, is the typical approach used to access the distal esophagus and drain pus and debris from the mediastinum and pleural space.
During the procedure, the surgeon closes the laceration, often reinforcing the repair with surrounding tissue, such as an omental patch. If diagnosis is delayed beyond 24 hours, the esophageal tissue can become inflamed and fragile, which may necessitate complex procedures like placing a T-tube for controlled drainage. The best outcomes are linked to surgical repair performed within the first 12 to 24 hours after the rupture.
For a small, contained rupture in a clinically stable patient without signs of sepsis, a non-surgical approach may be considered. This conservative management includes continued broad-spectrum antibiotics and complete cessation of oral intake. Newer endoscopic techniques, such as placing a covered stent across the defect or using specialized clips, are also used for select, smaller perforations as a less invasive alternative.