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.
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.
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%,
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.