Boerhaave Syndrome: Symptoms, Types, Causes and Treatment

Boerhaave syndrome is a rare but life-threatening condition involving spontaneous rupture of the esophagus, commonly following severe vomiting or retching. Its elusive nature, overlapping symptoms with other acute illnesses, and the risk of rapid deterioration make timely recognition and intervention critical. In this article, we comprehensively explore the symptoms, types, causes, and treatment strategies for Boerhaave syndrome, offering a detailed synthesis from recent literature and clinical reports.

Symptoms of Boerhaave Syndrome

Recognizing the symptoms of Boerhaave syndrome can be challenging, as they often mimic other serious medical conditions. Most patients present with a constellation of signs and symptoms, but classic presentations are surprisingly uncommon. Early identification relies on a high degree of clinical suspicion, particularly in individuals with a history of forceful vomiting.

Symptom	Frequency/Description	Associated Risks	Source(s)
Chest Pain	Severe, sudden, often retrosternal	Shock, misdiagnosis	1 3 4 5 8 15
Vomiting	Often forceful, sometimes with blood	Precedes rupture, diagnostic confusion	1 3 4 5 8 15
Subcutaneous Emphysema	Air under skin, neck or chest crackling	Mackler's triad, rare in full triad	3 5 8
Dyspnea (Shortness of Breath)	Common, may be severe	Respiratory failure, shock	1 3 4 5 15
Shock	Hypotension, tachycardia	High mortality risk	1 3 4 5
Abdominal Pain	Epigastric or diffuse	Confused with acute abdomen	1 3 5 7

Table 1: Key Symptoms

The Classic (and Atypical) Presentation

Traditionally, Boerhaave syndrome is associated with Mackler's triad: vomiting, severe chest pain, and subcutaneous emphysema. However, research highlights that this classic triad is present in only about half of cases, and even fewer patients exhibit all three features at once 3 5 8. Instead, symptoms are often non-specific and may overlap with conditions like myocardial infarction, pancreatitis, or perforated ulcer 1 5 7.

Chest and Abdominal Pain

• Chest pain is the most common presenting symptom, usually sudden, severe, and felt behind the breastbone or lower thorax. It may radiate to the back or abdomen 1 3 4 5 8 15.
• Abdominal pain (especially epigastric) can be prominent and sometimes leads to misdiagnosis as an acute abdomen 1 3 7.

Vomiting and Hematemesis

• Preceding forceful vomiting or retching is a hallmark sign. Some patients may vomit blood (hematemesis), though this is less common 1 3 4 5 15.
• Vomiting is not always present at onset, further complicating diagnosis 7.

Subcutaneous Emphysema

• Presence of air under the skin (felt as crackling) is classic but not always detected, especially early on 3 5 8.
• Occurs due to air leaking from the esophagus into surrounding tissues.

Respiratory and Systemic Signs

• Dyspnea, or difficulty breathing, is frequent, especially with larger tears or associated mediastinitis 1 3 4 5 15.
• Shock (low blood pressure, rapid pulse) may develop quickly due to mediastinal contamination and sepsis 1 3 4 5.

Diagnostic Challenges

Symptoms are often confused with:

• Heart attack (myocardial infarction)
• Perforated ulcer
• Pancreatitis
• Pleural effusion or tension pneumothorax 5 7

This non-specific presentation means a high index of suspicion is essential, especially after episodes of severe vomiting.

Types of Boerhaave Syndrome

While Boerhaave syndrome refers specifically to spontaneous, full-thickness esophageal rupture, it can be classified based on anatomical, etiological, and clinical criteria. Understanding these distinctions is vital for diagnosis and management.

Type	Description	Distinguishing Features	Source(s)
Classic (Distal)	Left posterolateral tear, distal esophagus	Most common, post-vomiting	3 4 12 15
Atypical/Variant	Non-classic location or presentation	Upper or mid-esophageal, delayed presentation	7 10
Partial (Mallory-Weiss)	Mucosal tear, not full-thickness	Non-transmural, less severe	8
Secondary/Iatrogenic	Rupture due to medical procedures	Not spontaneous, post-endoscopy	11

Table 2: Types of Boerhaave Syndrome

Classic vs. Atypical

Classic Distal Rupture

• Most cases involve the left posterolateral wall of the distal esophagus, just above the diaphragm (near the gastric cardia) 3 12 15.
• Typically follows forceful vomiting after overindulgence in food or alcohol 3 4 12.

Atypical/Variant Presentations

• Some ruptures occur higher in the esophagus or are not associated with vomiting 7 10.
• Delayed or chronic perforations may present without the classic triad and can be mistaken for other diseases 7.

Related and Secondary Types

Mallory-Weiss vs. Boerhaave

• Mallory-Weiss syndrome involves a mucosal (superficial) tear, usually in the gastroesophageal junction, and causes bleeding but not full perforation 8.
• Boerhaave syndrome is a transmural (full-thickness) rupture, allowing leakage of esophageal contents into the mediastinum and pleural cavity.

Iatrogenic and Idiopathic Types

• Iatrogenic perforations result mainly from endoscopic procedures and are more common than spontaneous ruptures 11.
• Some cases are labeled as "idiopathic" when no clear precipitating event is found, but true spontaneity is rare 12.

Special Considerations

• Eosinophilic esophagitis (EoE): Rarely, patients with EoE can develop Boerhaave syndrome after food impaction and vomiting; these cases may require surgery and occur most often in young men with allergic backgrounds 10.

Causes of Boerhaave Syndrome

Boerhaave syndrome arises from a sudden, dramatic increase in intraesophageal pressure against a closed glottis. This is typically caused by forceful vomiting, but a variety of underlying risk factors and precipitating events can play a role.

Cause	Mechanism/Trigger	Notable Associations	Source(s)
Forceful Vomiting	Sudden pressure, closed airway	Alcohol, overeating, food poisoning	1 3 4 11 12
Alcohol Abuse	Increased frequency/severity of vomiting	40% of cases, heavy drinking	1 4 11 12
Gastroduodenal Ulcer	Predisposes to vomiting	41% of cases	1
Food Impaction/EoE	Vomiting to dislodge food	Eosinophilic esophagitis	10
Procedures (Iatrogenic)	Endoscopy, dilation	Not spontaneous, but common	11
Food Poisoning	Gastroenteritis-induced vomiting	Underrecognized risk	11

Table 3: Causes and Risk Factors

Mechanisms of Rupture

Pathophysiology

• Retching or forceful vomiting against a closed glottis produces an abrupt and massive rise in intraesophageal pressure, causing the weakest part of the esophageal wall (typically the left distal side) to rupture 1 3 4 12.
• The rupture is usually longitudinal and full-thickness, allowing gastric contents, saliva, and bacteria to spill into the mediastinum and pleural spaces, rapidly causing inflammation and infection 1 12.

Common Triggers

• Alcohol overindulgence frequently precedes vomiting episodes and increases the risk of rupture 1 4 11.
• Large meals or food poisoning can also precipitate forceful vomiting, as described in several case reports 11 12.

Underlying Conditions

• Gastroduodenal ulcers and other gastrointestinal diseases can predispose patients to vomiting and increase risk 1.
• Eosinophilic esophagitis: Patients with undiagnosed or poorly managed EoE may have increased risk due to repeated food impaction and attempts to clear the obstruction via vomiting 10.
• Iatrogenic perforations: While not spontaneous, perforations due to endoscopic procedures are more common and can mimic Boerhaave syndrome in presentation 11.

Rare or Idiopathic Cases

• Occasionally, spontaneous rupture occurs without a clear trigger, especially in the elderly or those with weakened esophageal walls 12.

Treatment of Boerhaave Syndrome

Boerhaave syndrome is a surgical emergency. The success of treatment is highly time-dependent: early diagnosis and intervention dramatically improve survival, while delays beyond 24-48 hours are associated with much higher mortality rates.

Treatment Type	Indication/Timing	Survival/Outcome	Source(s)
Surgical Repair	Early diagnosis (<24–48 h), unstable or septic	70–81% survival, mainstay	1 2 6 9 13 14 15
Endoscopic Therapy	Early, stable, no sepsis	Up to 100% survival	6 13 15
Conservative	Late presentation, localized, stable	75% survival, select cases	6 13
Minimally Invasive	Selected, early stable cases	Safe, less trauma, promising	15

Table 4: Treatment Options and Outcomes

Principles of Management

Time is Critical

• Survival rates drop sharply if treatment is delayed beyond 24–48 hours 1 5 6 8 9 13.
• Early diagnosis and referral are essential for optimal outcomes 9 13.

Surgical Intervention

• Primary surgical repair remains the standard for most patients diagnosed within 24–48 hours, especially if there is evidence of sepsis, large perforation, or mediastinitis 1 2 6 9 13 14 15.
• Techniques include direct closure of the perforation, mediastinal and pleural drainage, and sometimes reinforcement with tissue patches 2 15.
• Mortality rates with early surgery have dropped to 31% or lower in recent decades 1 13.

Minimally Invasive Surgery

• Video-assisted thoracoscopic surgery (VATS) and laparoscopy are increasingly used for selected, stable patients and show promising outcomes with less surgical trauma 15.
• Minimally invasive approaches may not be suitable for all patients, especially those presenting late, with severe sepsis, or complex injuries 15.

Endoscopic and Conservative Management

Endoscopic Therapy

• Endoscopic stenting or clipping can be considered in early, stable cases with small perforations and no signs of widespread infection 6 13 15.
• Offers high survival rates but is limited to a subset of patients.

Conservative Therapy

• Suitable for late-presenting, stable patients with localized leaks and no evidence of sepsis or widespread contamination 6 13.
• Involves nil per os (NPO), broad-spectrum antibiotics, and careful monitoring.
• Surgical intervention is warranted if the patient deteriorates or develops sepsis 6.

Supportive and Adjunct Care

• Aggressive fluid resuscitation, antibiotics, and intensive care monitoring are essential throughout 1 4 6 13 15.
• Management of complications (pneumonia, empyema, shock) requires a multidisciplinary approach.

Prognosis

• Mortality has improved with early intervention but remains significant, especially with delayed diagnosis or inadequate management of sepsis 1 5 8 9 13 15.
• Long-term outcomes depend on the extent of injury, comorbid conditions, and timeliness of treatment.

Conclusion

Boerhaave syndrome, although rare, is a true medical emergency requiring urgent recognition and intervention. Its non-specific symptoms, varied presentations, and life-threatening complications make it a formidable challenge for clinicians. However, with heightened awareness and rapid, evidence-based management, patient outcomes are improving.

Key Points:

• Symptoms are often non-specific and overlap with other acute illnesses; Mackler’s triad is seen in less than half of cases 3 5 8.
• Classic type involves the distal esophagus after forceful vomiting, but atypical and secondary forms exist 3 7 10 12.
• Main causes include forceful vomiting, alcohol abuse, and food impaction; iatrogenic and idiopathic cases also occur 1 4 10 11 12.
• Early surgical intervention is the cornerstone of treatment, with minimally invasive and endoscopic approaches emerging for selected patients 6 13 15.
• Time to treatment is critical: delays beyond 24–48 hours greatly increase mortality 1 5 6 8 9 13.
• Supportive care and management of complications are vital throughout the recovery process.

Greater clinical vigilance and continued advances in diagnostic and therapeutic strategies offer hope for reducing the historically high mortality associated with this dramatic syndrome.