Boerhaave Syndrome is a rare but extremely severe condition involving a spontaneous, full-thickness rupture of the esophagus wall. This tear, which is not caused by external trauma or a medical procedure, is a medical emergency with a high risk of death. The syndrome is one of the most lethal perforations in the entire gastrointestinal tract, and the mortality rate can approach 100% without immediate medical intervention. Because its symptoms can mimic more common conditions, Boerhaave Syndrome requires a high degree of suspicion for a timely and life-saving diagnosis.
Defining the Syndrome and Its Mechanism
Boerhaave Syndrome is characterized by a “transmural tear,” meaning the rupture extends through all layers of the esophageal wall. This tear is usually longitudinal and occurs most frequently in the lower third of the esophagus, just above the stomach. The injury is barogenic, resulting from a sudden and massive increase in pressure inside the esophagus.
This pressure surge typically happens during forceful retching or vomiting. The rupture occurs when the upper esophageal sphincter fails to relax as the abdominal muscles contract violently against a closed mouth and glottis. This failure traps the pressure, which then exceeds the tensile strength of the esophageal wall.
When the esophagus tears, its contents—including stomach acid, digestive enzymes, and food debris—are expelled into the mediastinum, the central compartment of the chest. This leakage causes a severe inflammatory response known as chemical mediastinitis. The contaminated environment rapidly damages surrounding tissues, leading quickly to bacterial infection and sepsis. Less common causes of this spontaneous rupture include intense straining during childbirth, seizures, or heavy weightlifting.
Recognizing the Critical Symptoms
The classic presentation of Boerhaave Syndrome is the Mackler triad: chest pain, vomiting or retching, and subcutaneous emphysema. Fewer than half of all patients exhibit all three signs, which contributes to the difficulty in diagnosis. The chest pain is typically sudden and severe, often described as a tearing sensation located behind the breastbone.
This chest pain is frequently mistaken for a heart attack because the irritation of the mediastinum closely mimics cardiac pain. The initial vomiting or retching episode often immediately precedes the onset of pain. Subcutaneous emphysema involves air leaking from the ruptured esophagus into the soft tissues under the skin. It is most commonly felt as a crackling sensation around the neck or upper chest.
Other signs include difficulty breathing, a rapid heart rate, and fever, signaling the onset of infection and systemic inflammation. Fluid leakage into the chest cavity can also cause a massive pleural effusion, which is a buildup of fluid around the lungs. A high degree of suspicion is required due to the nonspecific nature of these symptoms, especially when acute chest pain follows forceful vomiting.
Diagnostic Procedures and Urgency
The diagnosis of Boerhaave Syndrome requires a rapid, focused approach to confirm the rupture and its extent. Imaging studies are the cornerstone of diagnosis, beginning with a simple chest X-ray. A chest X-ray may reveal indirect signs of perforation, such as pneumomediastinum (air in the mediastinum) or a left-sided pleural effusion (fluid buildup around the lung).
A computed tomography (CT) scan is commonly used next to provide a more detailed look at the chest cavity. The CT scan confirms the presence of air and fluid collections, locates the perforation site, and assesses the degree of inflammation. The most definitive diagnostic step is a contrast esophagram, also called a contrast swallow study.
During this procedure, the patient swallows a contrast agent while X-rays are taken to visualize the esophagus. Physicians initially use a water-soluble contrast medium because barium-based contrast could cause a severe inflammatory reaction if it leaks into the chest cavity. Direct visualization of the contrast material leaking out of the esophagus confirms the diagnosis and pinpoints the tear location.
The urgency of diagnosis is paramount, as the time elapsed before treatment directly impacts survival. Intervention within the first 12 to 24 hours is often referred to as the “golden period” and is associated with significantly better outcomes.
Treatment Strategies and Prognosis
The management of Boerhaave Syndrome depends on the patient’s stability, the tear size, and the time since rupture. Initial treatment involves aggressive supportive care to stabilize the patient. This includes immediate fluid resuscitation to combat shock and mandatory broad-spectrum antibiotics to treat the severe bacterial infection caused by leaking gastrointestinal contents.
Patients must be kept strictly “nil per os” (NPO), meaning they are not allowed to eat or drink, to prevent further contamination. Nutritional support is provided intravenously until the perforation is closed. Definitive treatment for the tear falls into two main categories: surgical and non-surgical approaches.
Surgical management involves a thoracotomy to access the esophagus and perform a primary repair of the tear. The chest cavity and mediastinum are then thoroughly washed and drained to remove contaminated material. For patients diagnosed within 24 hours, surgical repair offers the best chance of survival.
Non-surgical, or endoscopic, management is a viable option, particularly for smaller tears or unstable patients. This involves placing a self-expanding metal stent across the perforation site using an endoscope to seal the leak and allow healing. The prognosis is directly tied to the speed of intervention.
The survival rate for patients treated within 24 hours can be as high as 75%. However, this rate drops significantly after a 24-hour delay and can fall to nearly 10% if treatment is delayed beyond 48 hours.