A 37-year-old man had been experiencing chest pain, shortness of breath, increased thirst, and the inability to urinate for 12 hours. He was otherwise healthy, and had not had these symptoms before. He had a single episode of emesis before his symptoms started and no recent trauma.
He had been diagnosed with COVID-19 four months earlier, but he was not tested during this visit.
The patient had a blood pressure of 120/90 mm Hg, a heart rate of 120 bpm, a respiratory rate of 40 bpm, an oxygen saturation of 93% on a nonrebreather mask, and a temperature of 37.1°C. The patient appeared ill, and he was in moderate distress, diaphoretic, and uncomfortable. He had diminished breath sounds bilaterally. His heart rate was tachycardic but regular. He had a soft abdomen without tenderness or bilateral costovertebral angle tenderness.
A bedside ultrasound showed normal cardiac windows, including no pericardial effusion and normal squeeze. His chest x-ray is shown. The differential diagnosis for this patient was very broad given his diverse complaints, history, and exam. Respiratory pathology was the initial concern considering his hypoxia and chest x-ray.
The patient did not improve with noninvasive positive pressure ventilation, and he was transitioned back to a nonrebreather. A thoracentesis was performed, and the fluid appeared brown, and 1 L was removed from the right. What is on your differential diagnosis?
Find the diagnosis and case discussion on page 28.
Diagnosis: Boerhaave Syndrome
The patient subsequently had a CT scan to evaluate for pulmonary embolus. A representative slice of his CT scan is shown. The combination of the pneumomediastinum and bilateral pleural effusions raised suspicion for esophageal perforations.
Boerhaave syndrome, first described by Herman Boerhaave in the 18th century, is a type of esophageal perforation defined as an effort rupture of the esophagus from an increase in intraesophageal pressure coupled with a decrease in intrathoracic pressure. (UpToDate. https://bit.ly/2E36ko5.) This combination is most commonly seen with severe vomiting or retching. There is limited robust published data about Boerhaave syndrome.
Esophageal perforations are rare with a reported incidence of 3.1/1,000,000 per year. (Thorac Cardiovasc Surg. 2010;58:476.) More than 50 percent of esophageal perforations are iatrogenic, and spontaneous perforations consistent with Boerhaave syndrome likely make up about 15 percent to 25 percent of all perforations. (Thorac Cardiovasc Surg. 2010;58:476.) In spontaneous perforations, the injury is typically on the left posterolateral wall of the distal third of the esophagus. Perforations from iatrogenic or traumatic causes tend to be higher up in the esophagus, or they can be found in the abdomen. Prior to the first successful surgical intervention in 1947, esophageal perforations had a 100 percent mortality rate. Current management strategies have decreased the mortality to 20 percent to 30 percent. (Ann Thorac Surg. 2011;92:209; https://bit.ly/3hr5HmT.)
The textbook presentation for Boerhaave syndrome is a 40- to 60-year-old man with a recent history of significant alcohol use and a large meal followed by forceful vomiting and chest pain. In practice, history and symptoms reported by a patient with Boerhaave syndrome can depend on where the perforation occurs, the size of the perforation, and time since the injury. Mackler's triad—vomiting, chest pain, and subcutaneous emphysema—is strongly associated with the diagnosis. In some reviews, however, 20 to 45 percent of patients ultimately diagnosed with Boerhaave do not have a history of vomiting. (Ann R Coll Surg Engl. 2006;88:W4; https://bit.ly/2E3hv01.) Acute onset of severe abdominal or chest pain is likely the most consistently described symptom in textbooks and reviews, and a definitive diagnosis is frequently delayed.
Patients with Boerhaave typically present with SIRS physiology, including tachycardia, tachypnea, and possibly fever. Exam findings may include chest wall crepitus associated with subcutaneous emphysema or Hamman's sign, which is a crackling sound heard while auscultating the heart, especially while the patient is in the left lateral decubitus position. Depending on the time since injury, patients can also have significant respiratory compromise caused by the esophageal contents leaking into the thoracic cavity.
Workup should include labs and imaging studies to evaluate the chest and abdominal pain depending on presentation. Chest x-ray can be helpful to increase your suspicion for Boerhaave because most patients have an abnormal chest x-ray, with pleural effusion the most common. (BMJ Case Rep. 2019;12:e230343; https://bit.ly/32FTqqp.)
Other nonspecific findings include leukocytosis, electrolyte abnormalities, or an elevated lactate. Exclusion of other emergent pathologies such as myocardial infarction, pulmonary embolism, aortic pathology, or other perforated viscous is important. Patients occasionally undergo urgent thoracentesis because of respiratory distress and pleural effusion. Finding abdominal contents or fluid with a markedly low pH at the time of thoracentesis can be diagnostic of esophageal perforation.
The esophagram with water-soluble contrast (Gastrografin) is the initial study of choice for a definitive diagnosis. A negative Gastrografin test with high clinical suspicion for perforation should be followed up with a barium study. Water-soluble contrast studies miss up to 10 percent of cases, but cause significantly less irritation to the mediastinum, so they are the first choice for evaluation at most institutions. (UpToDate. https://bit.ly/2E36ko5.)
Upon diagnosis (or if clinically suspected while awaiting diagnosis), patients should not receive anything by mouth, and should receive broad-spectrum antibiotics with consideration for antifungal coverage, an intravenous proton pump inhibitor, and emergent surgical consultation. These patients have a high risk for developing mediastinitis, recurrent fluid collections, injury to lung tissue, and empyema. They typically have a prolonged hospital course even with optimal management.
Once the CT scan was obtained for this patient, surgery was immediately consulted. After resuscitation, an esophagram, and initiation of proton pump inhibitor, the patient was taken to the OR for an esophageal stent. Post-operatively, the patient remained intubated, required multiple pressors, and was taken to the surgical ICU for further care with the expectation that he would need to return to the OR multiple times for video-assisted thoracoscopic surgery and would likely have a complicated recovery.
Dr. Barrettis an assistant professor of emergency medicine at the University of Colorado School of Medicine in Aurora and an attending physician at Denver Health Medical Center. She is also an associate medical director for the Denver Health Paramedic Division and the medical director for the paramedic school.