Boerhaave Syndrome 

Updated: Dec 06, 2018
Author: Praveen K Roy, MD, AGAF; Chief Editor: Philip O Katz, MD, FACP, FACG 

Overview

Background

In 1724, Hermann Boerhaave, a Dutch physician and professor of clinical medicine, first described spontaneous rupture of the esophagus, which typically occurs after forceful emesis. Boerhaave syndrome, a transmural perforation of the esophagus, should be distinguished from Mallory-Weiss syndrome, a nontransmural esophageal tear that is also associated with vomiting. Because it is often associated with emesis, Boerhaave syndrome usually is not truly spontaneous. However, the term is useful for distinguishing it from iatrogenic perforation, which accounts for 85-90% of cases of esophageal rupture.

Diagnosis of Boerhaave syndrome can be difficult, because often no classic symptoms are present and delays in presentation for medical care are common.[1] Although Boerhaave syndrome classically presents as the Mackler triad of chest pain, vomiting, and subcutaneous emphysema due to esophageal rupture, these symptoms are not always present. In fact, approximately one third of all cases of Boerhaave syndrome are clinically atypical. Nonetheless, prompt recognition of this potentially lethal condition is vital to ensure appropriate treatment.[1] Mediastinitis, sepsis, and shock  are frequently seen late in the course of the illness, which further confuses the diagnostic picture.

A reported mortality estimate is approximately 35-40%,[1] making it the most lethal perforation of the gastrointestinal tract. The best outcomes are associated with early diagnosis and definitive surgical management within 12 hours of rupture. If intervention is delayed longer than 24 hours, mortality (even with surgical intervention) rises to higher than 50%, and to nearly 90% after 48 hours. Left untreated, mortality is close to 100%.

See Can't-Miss Gastrointestinal Diagnoses, a Critical Images slideshow, to help diagnose the potentially life-threatening conditions that present with gastrointestinal symptoms.

Pathophysiology

Esophageal rupture in Boerhaave syndrome is postulated to be the result of a sudden rise in intraluminal esophageal pressure produced during vomiting, caused by neuromuscular incoordination leading to failure of the cricopharyngeus muscle to relax. The syndrome is commonly associated with overindulgence in food and/or alcohol.

The most common anatomic location of the tear in Boerhaave syndrome is at the left posterolateral wall of the lower third of the esophagus, 2-3 cm proximal to the gastroesophageal junction, along the longitudinal wall of the esophagus. The second most common site of rupture is in the subdiaphragmatic or upper thoracic area.[2, 3]  Intrathoracic esophageal perforation can lead to the development of chemical mediastinitis from the gastric contents contaminating the mediastinal cavity. This can subsequently lead to mediastinal necrosis and bacterial infection.

Etiology

Boerhaave syndrome is a barogenic injury resulting from a sharp increase in the intraluminal pressure against a closed cricopharyngeus.

Perforation typically occurs at the weakest point in the esophagus, usually in the left lower esophagus below the diaphragm in adults, whereas in very young patients, the perforation is usually into the right pleural cavity.

Alcoholism and overindulgence in food and drink are primary risk factors. Both can lead to emesis, which is a major component of the classic presentation. Other reported but less likely causes of Boerhaave syndrome include caustic ingestion, childbirth, seizures, weightlifting, trauma, and medical instrumentation. A portion of these patients may have underlying peptic ulcer disease, eosinophilic esophagitis, medication-induced esophagitis, or Barrett esophagus. 

No genetic predilection is apparent.

Epidemiology

International data

Although it is likely underreported, the incidence of Boerhaave syndrome is relatively rare, with an estimated incidence of 3.1 per 1,000,000 persons per year.[4]  Among esophageal perforations, aproximately 15% are spontaneous perforations, and the majority of these are iatrogenic in nature.[5]  A 1980 review by Kish and Katske cited 300 cases in the literature worldwide.[6]  A 1986 summary by Bladergroen et al described 127 cases; of these, 114 were diagnosed antemortem, and the others were diagnosed at autopsy.[7] Overall, Boerhaave syndrome accounts for 15% of all cases of traumatic rupture or perforation of the esophagus.

Race-, sex-, and age-related demographics

Cases of Boerhaave syndrome have been reported in all races and on virtually every continent, affecting males more commonly than females, with male-to-female ratios ranging from 2:1 to 5:1.

Boerhaave syndrome is seen most frequently among patients aged 50-70 years. Reports suggest that 80% of all patients are middle-aged men. However, this condition has also been described in neonates and in persons older than 90 years. Although no clear explanation exists for this, the least susceptible age group appears to be children aged 1-17 years.

Prognosis

The prognosis of Boerhaave syndrome is directly contingent on its early recognition and appropriate intervention.[1] Early diagnosis allows prompt surgical repair. Diagnosis and surgery within 24 hours carries a 75% survival rate but drops to approximately 50% after a 24-hour delay and approximately 10% after 48 hours.

Morbidity/mortality

Morbidity and mortality are high. Esophageal perforation is the most lethal perforation of the gastrointestinal tract. Early recognition and appropriate surgical intervention are essential for survival.

Overall, the mortality rate is approximately 30%. Mortality is usually due to subsequent infection, including mediastinitis, pneumonitis, pericarditis, or empyema.

As noted earlier, patients who undergo surgical repair within 24 hours of injury have a 70-75% chance of survival. This falls to 35-50% if surgery is delayed longer than 24 hours and to approximately 10% if delayed longer than 48 hours. Therefore, early diagnosis and intervention of esophageal perforation significantly reduces mortality. 

Cases of patients surviving without surgery exist but are rare enough to warrant case reports in the medical literature.

Complications

Esophageal rupture may lead to the development of septicemia, pneumomediastinum, mediastinitis, massive pleural effusion, empyema, pneumomediastinum, or subcutaneous emphysema.

If the esophageal rupture extends directly into the pleura, hydropneumothorax is expected. In adults, this occurs more commonly on the left side of the pleura. In neonates, esophageal rupture usually occurs on the right side.

After esophageal rupture, free air enters the mediastinum and also may spread to the adjacent structures, resulting in mediastinal abscess or superimposed secondary infection.

Other complications include acute respiratory distress syndrome, pneumomediastinum, pneumothorax, and hydrothorax.

 

Presentation

History

The classic clinical presentation of Boerhaave syndrome usually consists of repeated episodes of retching and vomiting, typically in a middle-aged man with recent excessive dietary and alcohol intake.

These repeated episodes of retching and vomiting are followed by a sudden onset of severe chest pain in the lower thorax and the upper abdomen. The pain may radiate to the back or to the left shoulder. Swallowing often aggravates the pain.

Typically, hematemesis is not seen after esophageal rupture, which helps to distinguish it from the more common Mallory-Weiss tear.

Swallowing may precipitate coughing because of the communication between the esophagus and the pleural cavity.

Atypical clinical features sometimes delay obtaining a prompt diagnosis and the adminstration of appropriate intervention. This may result in an increase in morbidity and mortality.

Shortness of breath is a common complaint and is due to pleuritic pain or pleural effusion.

Other conditions to consider include spontaneous intramural esophageal perforation and spontaneous intramural hematoma of the esophagus (esophageal apoplexy).[8]

Physical Examination

Although the Mackler triad of vomiting, lower thoracic pain, and subcutaneous emphysema is the classic presentation of Boerhaave syndrome, this triad is actually rare, which may then lead to a delay in diagnosis.[9]  

Patients' presentation may vary depending on the following:

  • The location of the tear

  • The cause of the injury

  • The amount of time that has passed from the perforation to the intervention

Patients with cervical esophagus perforation may present with neck or upper chest pain.

Patients with middle or lower esophagus perforation may present with interscapular or epigastric discomfort.

Findings of pleural effusion are common.

If present, subcutaneous emphysema is particularly helpful in confirming the diagnosis. This feature is seen in 28-66% of patients at initial presentation. More typically, subcutaneous emphysema is found later.

Other classic findings include tachypnea and abdominal rigidity.

Tachycardia, diaphoresis, fever, and hypotension are common, particularly as the illness progresses. However, these findings are nonspecific.

Unusual findings may include the following:

  • Peripheral cyanosis

  • Hoarseness of the voice due to recurrent laryngeal nerve involvement

  • Tracheal and mediastinal shift

  • Cervical vein distention

  • Proptosis

Pneumomediastinum is a very important finding. It may cause a crackling sound upon chest auscultation, known as the Hamman crunch. The crunch is typically heard coincident with each heartbeat and may be mistaken for a pericardial friction rub. This is present in 20% of patients.

Later stages of the illness may manifest with signs of infection and sepsis. Symptoms may include fever, hemodynamic instability, and progressive obtundation. Establishing a diagnosis in the later stages can be quite difficult, because septic complications begin to dominate the clinical picture. Again, early diagnosis is critical.

 

DDx

Differential Diagnoses

 

Workup

Laboratory Studies

Laboratory findings are often nonspecific in patients with Boerhaave syndrome.

Patients may present with leukocytosis and a left shift.

As many as 50% of patients with Boerhaave syndrome have a hematocrit value that approaches 50%. This may be due to fluid loss into the pleural spaces and tissues.

The level of serum albumin is often normal or it may be low, whereas the globulin fraction may be normal or slightly elevated.

Many patients present with a pleural effusion. Thoracentesis with examination of the pleural fluid can aid in the diagnosis. Undigested food particles and gastric juices usually are found. If no gross particles are found, cytology can be used to confirm or exclude their presence, but time is of the essence. The pH of the pleural fluid will be less than 6, and the amylase content will be elevated. Squamous cells from saliva may be found.

Imaging Studies

Upright chest radiography

An upright chest x-ray is useful in the initial diagnosis, because in 90% of patients an abnormal finding after perforation is revealed.

The most common finding is a unilateral effusion, usually on the left. This corresponds with the fact that most perforations occur in the left posterior aspect of the esophagus. Other findings may include free air in the mediastinum or peritoneum, pneumothorax, hydropneumothorax, pneumomediastinum, subcutaneous emphysema, or mediastinal widening.

The V-sign of Naclerio has been described as a chest radiograph finding in as many as 20% of patients. This involves the presence of radiolucent streaks of air that dissect the fascial planes behind the heart to form the shape of the letter V. It is a fairly specific, although insensitive, radiographic sign of esophageal perforation.

Overall, 10% of chest radiographs are normal. This can be at least partly explained by the delayed radiographic development of mediastinal and subcutaneous emphysema. These findings may take an hour or more after perforation to appear on the chest radiograph.

Esophagography

Esophagography helps to confirm the diagnosis of Boerhaave syndrome. It typically shows extravasation of contrast material into the pleural cavity.

An esophagram outlines the length of the perforation and its location, which aids in the decision on whether to use a thoracic or abdominal surgical approach.

Initially, use a water-soluble contrast medium, such as Gastrografin. It has 90% sensitivity but may have false-negative results in up to 20% of patients.

The use of barium in patients affected with Boerhaave syndrome has been associated with severe mediastinitis. This complication may contribute significantly to increased morbidity and mortality.

If the contrast study is negative and the clinical index of suspicion remains high, placing the patient in the left and right lateral decubitus positions is often helpful. The use of barium would then be warranted.

Computed tomography (CT) scanning

CT scanning can reveal decisive criteria for the diagnosis. It is helpful in patients too ill to tolerate esophagrams, and it localizes collections of fluid for surgical drainage. This imaging modality can also demonstrate periesophageal air tracks that are suggestive of perforation, although it may not precisely localize the exact site of perforation.

Visualization of adjacent structures is possible, which expands the differential diagnosis in patients with chest pain and vomiting.

Procedures

Endoscopy is not commonly used to aid in the diagnosis of Boerhaave syndrome. Its role is controversial because it carries the additional risks of increasing the size and extent of the original perforation and forcing additional air through the perforation into the mediastinum or pleural cavity.

It is more useful in the thoracic esophagus, because endoscopy has poor sensitivity in the cervical esophagus.

Endoscopy may be useful when a perforation is suspected but not proven, especially when trauma (eg, ingested foreign body) is known or suspected to be present.

 

Treatment

Approach Considerations

Ideal management for Boerhaave syndrome involves a combination of both conservative and surgical interventions.

Mainstays of therapy include the following:

  • Intravenous volume resuscitation

  • Administration of broad-spectrum antibiotics

  • Prompt endoscopic and/or surgical intervention

The decision to use a conservative (medical intervention only) or an aggressive (medical plus surgical intervention) approach depends on the following factors:

  • Time delay in presentation and diagnosis

  • Extent of perforation

  • Overall medical condition of the patient

Surgical intervention is the standard of care in most cases, but Cameron et al established a set of criteria in which conservative (nonsurgical) management might be appropriate.[10] These include the following:

  • The esophageal disruption should be well contained in the mediastinum.

  • The cavity should be well drained back into the esophagus. 

  • Few symptoms should be present.

  • Evidence of clinical sepsis should be minimal.

Conservative management consists of the following:

  • Intravenous fluids should be administered.

  • Antibiotics: Imipenem/cilastatin or ticarcillin/clavulanate offer good broad-spectrum coverage.

  • Nasogastric suction should be applied.

  • Keep the patient nil per os (NPO).

  • Adequate drainage with tube thoracostomy or formal thoracotomy is vital.

  • Early use of nutritional supplementation: Evidence suggests that for hastening recovery, a jejunostomy tube feeding may be favored over hyperalimentation.

Consultations

Consultation with a thoracic or general surgeon and gastroenterologist is indicated as soon as the diagnosis is suspected.

An infectious disease specialist should be consulted for assistance with antimicrobial therapy.

Surgical Care

Barrett described the first successful surgical repair of the esophagus in 1947. Prior to this, Boerhaave syndrome had a virtually 100% mortality.

Most physicians advocate surgical intervention if the diagnosis is made within the first 24 hours after perforation. Direct repair of the rupture and adequate drainage of the mediastinum and pleural cavity provide the best survival rates.

A left thoracotomy is the preferred approach, although laparotomy may be necessary if the tear extends into the distal esophagus. Various techniques, such as the use of an omental flap, may be used to support the primary closure. Gastrostomy and jejunostomy tubes are often placed to aid in drainage and nutrition, respectively.

The vitality of the surrounding tissue is an important factor in selecting the surgical procedure. For patients in whom a delay in diagnosis occurred, (>24 h) primary repair may not be possible. After 24 hours, the wound edges are frequently edematous, stiff, and friable.

Various alternatives to primary repair are available, including the following:

  • The most common procedure includes the creation of an esophageal diversion through the use of a loop or end-cervical esophagostomy. This allows the wound to heal by secondary intention.

  • The use of T-tubes also has been described. T-tube use results in the formation of a controlled fistula and a route for drainage of esophageal secretions and refluxed gastric materials.

  • One study noted that the option of primary repair may be considered for perforations as old as 72 hours.

Newer techniques involve the use of plastic-covered, self-expanding metal stents.[11, 12]  Note the following:

  • These techniques are considered acceptable alternatives only when all other interventional options have been exhausted. 

  • The use of stents in Boerhaave syndrome is recommended for cases that involve extreme delays in diagnosis or a failure of conservative management.

  • Expandable metal stents are most commonly used as palliative interventions for unresectable malignant esophageal obstruction.

  • These devices bridge the esophageal tear.

  • Several types of stents are available, with varying flexibility. Research holds the promise of biodegradable stents, obviating the necessity for removal.

Late complications of surgical intervention may include the following:

  • Empyema that often requires tube drainage or decortication

  • Esophagotracheal or esophagobronchial fistulas

Based on a review of published literature, de Schipper et al recommended endoscopic treatment of Boerhaave syndrome in certain cases.[3]   The authors determined that the survival rates for conservative, surgical, and endoscopic treatments for Boerhaave syndrome are, respectively, 75%, 81%, and 100%. They concluded that patients should be treated endoscopically when the condition has been diagnosed within 48 hours of the esophageal rupture, provided there are no signs of sepsis. If the diagnosis is made within 48 hours of rupture but the patient has a septic profile, the investigators recommended that thoracotomy with hemifundoplication and pleural/mediastinal drainage be performed.[3]

de Schipper et al also indicated that intra-abdominal leakage necessitates local repair via laparotomy[3]  In addition, they recommended that patients who are diagnosed more than 48 hours after esophageal rupture should undergo conservative therapy, with surgical treatment employed in these patients only when they have a septic profile.

More recently, endosocopic vacuum therapy has been under investigation for the management of esophageal perforation or leaks.[13, 14]  This therapy has been shown to be successful in a few case reports or case series.

 

Medication

Medication Summary

The goals of pharmacotherapy are to reduce morbidity and to prevent complications.

Antibiotics

Class Summary

Empiric antimicrobial therapy must be comprehensive and should cover all likely pathogens in the context of the clinical setting. A broad-spectrum antibiotic, such as imipenem/cilastatin (Primaxin), is recommended. Broad spectrum intravenous antibiotics should be continued for 7 to 14 days.

Imipenem/cilastatin (Primaxin)

Offers good broad-spectrum coverage. For treatment of multiple-organism infections in which other agents do not have wide-spectrum coverage or are contraindicated due to potential for toxicity.

 

Questions & Answers

Overview

What is Boerhaave syndrome?

What is the pathophysiology of Boerhaave syndrome?

What causes Boerhaave syndrome?

What is the prevalence of Boerhaave syndrome?

Which age groups have the highest prevalence of Boerhaave syndrome?

What is the prognosis of Boerhaave syndrome?

What are the morbidity and mortality associated with Boerhaave syndrome?

What are the possible complications of Boerhaave syndrome?

Presentation

Which clinical history findings are characteristic of Boerhaave syndrome?

Which factors affect the clinical presentation of Boerhaave syndrome?

Which physical findings are characteristic of Boerhaave syndrome?

What are unusual physical findings of Boerhaave syndrome?

Which is the significance of a finding of pneumomediastinum during the evaluation of Boerhaave syndrome?

What are the signs and symptoms of the later stages of Boerhaave syndrome?

DDX

What are the differential diagnoses for Boerhaave Syndrome?

Workup

What is the role of lab testing in the workup of Boerhaave syndrome?

What is the role of chest radiography in the workup of Boerhaave syndrome?

What is the role of esophagography in the workup of Boerhaave syndrome?

What is the role of CT scanning in the workup of Boerhaave syndrome?

What is the role of endoscopy in the workup of Boerhaave syndrome?

Treatment

How is Boerhaave syndrome treated?

Which factors determine treatment selection for Boerhaave syndrome?

What are criteria for conservative (nonsurgical) treatment of Boerhaave syndrome?

What is included in conservative treatment of Boerhaave syndrome?

Which specialist consultations are beneficial to patients with Boerhaave syndrome?

What is the role of surgery in the treatment of Boerhaave syndrome?

What are the late complications of surgical intervention for Boerhaave syndrome?

What is the efficacy of surgery for Boerhaave syndrome?

Medications

What is the goal of drug treatment for Boerhaave syndrome?

Which medications in the drug class Antibiotics are used in the treatment of Boerhaave Syndrome?