When Textbook Meets Reality: A Rare Case of Boerhaave’s Syndrome With Mackler’s Triad

Abstract

Boerhaave’s syndrome is a rare and life-threatening form of spontaneous esophageal perforation, typically triggered by forceful vomiting and often misdiagnosed due to nonspecific clinical features. Although Mackler’s triad (vomiting, chest pain, and subcutaneous emphysema) is classically associated with the condition, it is infrequently observed in full. We present the case of a 32-year-old man with a history of ulcerative colitis (UC) who presented to the emergency department with acute chest pain and repeated vomiting following dinner. He reported a sensation of food impaction and sought care 2 hours after symptom onset. Examination revealed subcutaneous emphysema and abdominal tenderness. Imaging with oral contrast-enhanced computed tomography revealed pneumomediastinum, pneumoperitoneum, and a distal esophageal perforation, confirming Boerhaave’s syndrome. He underwent robotic-assisted laparoscopic repair with anterior fundoplication, endoscopic stenting, and drainage. His postoperative course included thoracentesis, IV antibiotics, and a gradual reintroduction of diet. A mild UC flare was managed with mesalamine. He was discharged in stable condition on postoperative day 9 and had full radiologic recovery at 3 months. This case stands out for its complete presentation of Mackler’s triad, a rare occurrence that facilitated early diagnosis. The patient’s young age and concurrent UC added clinical complexity. Prompt imaging and early minimally invasive surgical management, combined with coordinated multidisciplinary care, were key to a favorable outcome. This case underscores the importance of considering Boerhaave’s syndrome in atypical presentations and acting swiftly when classical signs do appear.

Introduction

Esophageal perforation is an uncommon but serious clinical condition, with an annual incidence estimated at ~3.1 cases/million individuals. ¹ While the majority of cases arise from iatrogenic causes, such as complications from endoscopic procedures or thoracic surgeries, noniatrogenic trauma can also contribute. A particularly rare etiology is spontaneous transmural rupture of the esophagus, known as Boerhaave’s syndrome, which accounts for roughly 15% of all esophageal perforations. ² This syndrome typically results from a sudden and significant rise in intraesophageal pressure against a backdrop of negative intrathoracic pressure, often occurring during forceful vomiting preceded by deep inspiratory efforts. ² Commonly associated risk factors include excessive alcohol intake and episodes of heavy eating. ³

Classically, patients with esophageal perforation have been described as presenting with Mackler’s triad (chest pain, vomiting, and subcutaneous emphysema). However, this combination is observed in almost 15% of cases. ⁴ The clinical presentation can be highly variable, with many individuals exhibiting atypical or nonspecific symptoms, which often contributes to delayed or incorrect diagnoses. Despite this variability, episodes of intense or repeated vomiting remain a key feature in most presentations. ⁵ For diagnostic evaluation, imaging studies such as contrast-enhanced computed tomography (CT) are frequently employed, offering high sensitivity and specificity ranging from 92% to 100%. Alternatively, an esophagogram may provide valuable insights, particularly regarding the site and extent of any suspected esophageal leak. ⁴

Timely recognition of esophageal perforation is critical to successful management. Outcomes are significantly more favorable when the condition is identified within the first 12 to 24 hours. The choice between surgical and endoscopic repair depends on several factors, including the site and extent of the perforation, the patient’s overall clinical status, underlying comorbidities, and, notably, the interval between symptom onset and definitive treatment. ⁵ Despite advances in management, recent data report mortality rates ranging from 40% to 60%, underscoring the urgency of prompt diagnosis and intervention. ⁶

Here, we present the case of a 32-year-old man who developed Boerhaave’s syndrome following an episode of forceful vomiting and strikingly exhibited the full Mackler’s triad, an uncommon but diagnostically revealing presentation that reinforces the importance of clinical vigilance in such rare scenarios.

Case Presentation

A 32-year-old white male with a known history of ulcerative colitis (UC), diagnosed 1 year prior and managed with intermittent corticosteroids and bimonthly intravenous infliximab, presented to the emergency department with acute chest pain and multiple episodes of forceful vomiting. The symptoms began suddenly during dinner, when the patient experienced a sensation of food becoming lodged in his lower chest, followed by ~10 episodes of nonbloody emesis of recently ingested food. He sought medical attention 2 hours after symptom onset.

The chest pain was central, pleuritic in nature, nonradiating, and unrelated to food intake or body position. He denied recent alcohol use, fever, palpitations, diaphoresis, dizziness, or syncopal episodes. On physical examination, the patient was alert and oriented but in acute distress. Notable findings included palpable crepitus over the right side of the neck, consistent with subcutaneous emphysema, and generalized abdominal tenderness with guarding but no rebound. Vital signs were within normal limits.

Laboratory investigations revealed leukocytosis with a white blood cell count of 30 × 10⁹/L, a normal serum lactate of 1.0 mmol/L, and an elevated C-reactive protein of 9.5 mg/dL. Chest radiography demonstrated mediastinal widening and a small right-sided pleural effusion. A contrast-enhanced CT scan of the chest, abdomen, and pelvis showed pneumoperitoneum, pneumomediastinum, and air tracking along the esophagus into the neck soft tissues. Oral contrast was observed leaking from a subcentimeter perforation along the anterior aspect of the distal esophagus, near the gastroesophageal junction. These findings confirmed the diagnosis of transmural esophageal rupture consistent with Boerhaave’s syndrome (Figures 1 and 2).

Figure 1.

Axial CT image shows extraluminal oral contrast along the left lateral aspect of the distal esophagus near the gastroesophageal junction, indicating a perforation. Prominent pneumomediastinum is seen surrounding the esophagus. CT, computed tomography.

Figure 2.

Sagittal CT image demonstrates pneumomediastinum tracking along the esophageal course, with extension of free air into the upper abdomen, consistent with communication between the thoracic and peritoneal compartments due to esophageal rupture. CT, computed tomography.

The patient underwent emergent robotic-assisted laparoscopic repair of the perforation with anterior fundoplication, accompanied by endoscopic evaluation, esophageal stent placement, and esophagography. A left chest tube was placed intraoperatively for drainage. On postoperative day 2, he underwent ultrasound-guided thoracentesis for a right-sided pleural effusion, yielding 450 mL of clear exudative fluid.

Postoperatively, the patient had an uneventful recovery. He tolerated a graded bariatric diet beginning on postoperative day 4 and completed a 7-day course of intravenous piperacillin-tazobactam. He experienced a mild UC flare during hospitalization, presenting with intermittent blood-tinged loose stools, for which he was evaluated by the gastroenterology team and started on mesalamine with favorable response.

He was discharged in stable condition on postoperative day 9 with prescriptions for mesalamine and a proton pump inhibitor, and instructed to follow-up with both surgical and gastroenterology teams. The esophageal stent was removed during the patient’s 2-week follow-up appointment. At a 3-month follow-up, CT imaging of the abdomen and pelvis demonstrated resolution of the previously noted pneumomediastinum and emphysematous changes along the stomach and esophageal wall, indicating complete recovery.

Discussion

Boerhaave’s syndrome refers to a spontaneous, full-thickness perforation of the esophagus, typically resulting from a sudden and forceful rise in intraesophageal pressure combined with negative intrathoracic pressure. This pressure gradient, most often triggered by intense vomiting or retching, generates a shearing force that can compromise the esophageal wall integrity. ⁷ Though rare, this condition is associated with high morbidity and mortality, particularly when diagnosis and intervention are delayed. In this case, the patient’s presentation with the complete Mackler’s triad offers a rare but textbook example, emphasizing the value of recognizing classical clinical signs in facilitating early diagnosis and prompt management.

The clinical presentation of esophageal perforation is often nonspecific and may mimic a range of other conditions, including acute pancreatitis, pneumonia, myocardial infarction, and perforated peptic ulcer disease, which can lead to diagnostic delays. ⁸ Although forceful vomiting remains the most common trigger, up to 25% to 45% of patients with Boerhaave’s syndrome report no emesis, and spontaneous rupture has been documented in contexts such as labor, seizures, vigorous coughing, laughing, or heavy lifting; any scenario that causes a sudden spike in intraesophageal pressure. ⁹ Classically, the syndrome is described by Mackler’s triad: vomiting, chest pain, and subcutaneous emphysema; observed in fewer than 15% of cases as mentioned. Notably, our patient presented with the complete triad, which is uncommon in clinical practice but proved to be a critical clue in prompting rapid evaluation. Imaging played a decisive role: initial chest radiography raised suspicion by revealing mediastinal widening and a right pleural effusion, while contrast-enhanced chest CT scan confirmed the diagnosis by identifying pneumomediastinum, pneumoperitoneum, and contrast extravasation at the distal esophagus. CT remains the diagnostic modality of choice due to its high sensitivity and ability to delineate both the extent and complications of the perforation, enabling prompt and targeted management. ¹⁰

Initial management of Boerhaave’s syndrome begins with supportive care. Definitive management strategies depend on the location, size, containment, and timing of the perforation, as well as the patient’s overall clinical condition. In cases of contained perforations without systemic compromise, conservative treatment with intravenous antibiotics, parenteral nutrition, and percutaneous drainage of localized collections may be sufficient. ¹¹ Tarazona et al presented a case of successful conservative management in Boerhaave syndrome in a 19-year-old male patient. ¹² However, uncontained perforations often necessitate surgical or endoscopic intervention. ¹¹ Our patient, who presented within 2 hours of symptom onset with radiological evidence of a distal esophageal leak with pneumoperitoneum and extensive mediastinal air, was managed surgically via a robotic-assisted laparoscopic repair with anterior fundoplication. This minimally invasive approach offered excellent visualization and precision while reducing operative morbidity as reviewed by Bencini et al. ¹³ In addition, endoscopic stent placement was performed to reinforce esophageal integrity and support healing. Additionally, intraoperatively placed left chest tube helped prevent fluid accumulation and infection. Sudarshan and Cassivi, ¹⁴ in their review on managing traumatic esophageal injuries, emphasize the critical role of effective drainage in treatment.

This case is particularly notable due to the patient’s demographic and clinical background. Boerhaave’s syndrome predominantly affects middle-aged to older individuals, with a higher incidence in males aged 50 to 70 years. ⁵ The occurrence in a 32-year-old male underscores the necessity for clinicians to maintain a high index of suspicion for esophageal perforation, even in younger patients. Furthermore, the patient’s history of UC, managed with immunosuppressive therapy, adds complexity to the clinical picture. While UC primarily affects the colon, systemic inflammation and the use of immunosuppressants can predispose patients to a range of complications, including increased susceptibility to infections and potential impairment in wound healing. In this context, the multidisciplinary collaboration between surgical and gastroenterology teams was pivotal, exemplifying the importance of comprehensive care in managing complex cases involving multiple comorbidities.

Conclusion

Boerhaave’s syndrome remains a rare but potentially fatal condition that requires urgent recognition and intervention. This case highlights the diagnostic importance of Mackler’s triad, which although infrequent, served as a crucial clinical clue. The patient’s young age and underlying UC, coupled with a rapid and coordinated multidisciplinary approach, underscore the necessity of maintaining a broad differential diagnosis even in atypical scenarios. Minimally invasive surgical repair with adjunctive esophageal stenting and early drainage proved effective, contributing to a favorable recovery. Continued clinical vigilance and prompt, tailored management remain essential to improving outcomes in spontaneous esophageal perforation.