Boerhaave syndrome

Other Names: Boerhave syndrome; Spontaneous rupture of the esophagus; Spontaneous perforation of the esophagus; Boerhaave's syndrome

Boerhaave syndrome is due to the rupture of the esophagus due to forceful emesis. The disorder may present with vague symptoms or one may note the classic Mackler triad of vomiting, chest pain, and subcutaneous emphysema. The earlier the diagnosis made, the better the outcomes. Boerhaave’s Syndrome is one of the most lethal disorders of the gastrointestinal tract, with mortality rates up to 40%. Symptoms may vary, and diagnosis can be challenging. In addition, several factors, including difficulty assessing the esophagus and the unusual blood supply of the organ, contribute to the condition’s high morbidity.

Epidemiology

Boerhaave’s syndrome was first described in 1724 by Hermann Boerhaave, Professor of Medicine at Leiden University. In one of his publications entitled “History of a Grievous Disease Not Previously Described”, he discussed the case of Baron Jan von Wassenaer, a Holland admiral, who after a feast, began to vomit and suffered left-sided chest pain shortly afterward. Unfortunately, he survived for only 24 hours after the incident. Today, Boerhaave’s syndrome accounts for approximately 15% of all cases of esophageal rupture. Although the actual incidence of esophageal perforation worldwide is unclear, some studies estimate an incidence of approximately 3.1 per 1,000,000 per year. The patient population who suffer from Boerhaave’s syndrome varies, but the risk is highest in middle-aged males. The condition is highly associated with alcohol ingestion.

Cause

Boerhaave’s syndrome is also known as spontaneous esophageal rupture or effort rupture of the esophagus. Although vomiting is thought to be the most common cause, other causes include weightlifting, defecation, epileptic seizures, abdominal trauma, compressed air injury, and childbirth, all of which can increase the pressure in the esophagus and cause a barogenic esophageal rupture. Most cases occur in patients with a normal underlying esophagus, although the presence of esophagitis or ulcers has also been found in a subset of individuals. Two common risk factors include alcoholism and excessive indulgence in food.

Signs and symptoms

Symptoms consist of vomiting, lower thoracic pain, and subcutaneous emphysema. A provider should suspect Boerhaave’s syndrome when a patient presents with retrosternal chest pain with or without subcutaneous emphysema when associated with heavy alcohol intake and severe or repeated vomiting. Up to one-third of patients do not present with these symptoms.

The actual clinical presentation of Boerhaave syndrome will depend on the level of the perforation, the degree of leakage, and the time since the onset of the injury. Typically, the patient will present with pain at the site of perforation, usually in the neck, chest, epigastric region, or upper abdomen.

Cervical perforations can present with neck pain, dysphagia, or dysphonia; intra-thoracic perforations with chest pain; and intra-abdominal perforations with epigastric pain radiating to the shoulder or back. History of increased intra-esophageal pressure for any reason followed by chest pain should prompt consideration of this condition. Physical exam findings may include abnormal vitals (tachycardia, tachypnea, fever), decreased breath sounds on the perforated side, mediastinal emphysema, and Hamman's sign (mediastinal “crackling” accompanying every heartbeat) in left lateral decubitus position.

Diagnosis

Unfortunately, laboratory tests provide little help in the diagnosis; however, they can exclude more common conditions in the differential including myocardial infarction and pancreatitis. Imaging is of high importance in diagnosing Boerhaave’s Syndrome.

While chest X-ray is readily available, it is normal for approximately 15% of cases and can not be used to exclude the diagnosis. Potential chest X-ray findings include subcutaneous or mediastinal emphysema, mediastinal widening, pleural effusion, and in 20% of cases, the “V sign” (radiolucent streak of air dissecting the retrocardiac fascial planes). 

The diagnostic tool of choice is the contrast esophagogram using a water-soluble contrast agent such as gastrografin. Such a study will show the extravasation of contrast material at the site of the perforation. Even though barium is superior in demonstrating small perforations, its use is not advised since extravasation of this material can lead to mediastinitis with subsequent fibrosis.

CT scan is being used by many instead of contrast esophagogram due to its higher sensitivity and more detailed assessment of the involved organs.

Endoscopy should be used with caution due to the risk of further esophageal perforation. If a chest tube is present, one can also use the methylene blue dye test. When sweetened methylene blue is taken orally, it gives a bluish discoloration to the chest tube effluent within 12 – 24 hours.

Treatment

Treatment is typically tailored to the patient’s presentation, the type, and extent of the rupture, the time to diagnosis, and the viability of the esophageal wall. Early perforations, those diagnosed within 12-24 hours, have the best outcomes. Three common treatment options include conservative, endoscopic, or surgical. The mainstay of treatment includes volume replacement, broad-spectrum antibiotic coverage, and surgical evaluation.

Surgical intervention includes primary esophageal repair through open thoracotomy vs. VATS with fundic reinforcement, which is the gold standard within the first twenty-four hours. Endoscopic placement of stents has been used to prevent fistula formations or seal esophageal leaks in both patients with delayed diagnoses and those with the early diagnosis without widespread contamination.

Conservative measurements are usually reserved for small or contained ruptures. Controversy occurs when a late perforation, those diagnosed after 24 hours, is diagnosed, as the wound edges are typically edematous, stiff, or friable rendering primary repair risky. Taking this into consideration, many manage late perforations through debridement of pleural cavity and mediastinum, esophagostomy, and feeding gastrostomy. Esophageal replacement is usually done after 6 weeks. Nutritional supplementation is required if prolonged NPO status is necessary.

Prognosis

The prognosis depends on the time of diagnosis. Delayed diagnosis and treatment usually are associated with poor outcomes. Those who undergo diagnosis and surgery within 24 hours carry a good prognosis with a survival rate of 75%.

Complications

• Mediastinitis
• Massive pleural effusion
• Pneumomediastinum
• Empyema
• Subcutaneous emphysema
• ARDS
• Death

NIH genetic and rare disease info

• NIH info on Boerhaave syndrome

Boerhaave syndrome is a rare disease.

Boerhaave syndrome Resources
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