What is the frequency of atypical presentations of Boerhaave's syndrome?

Primary Motility Disorders of the Esophagus

The Esophageal
Mucosa

The
Esophagogastric Junction

Barrett's
Esophagus

Volume: The Esophagogastric Junction
Chapter: Esophageal perforations at the EGJ

What is the frequency of atypical presentations of Boerhaave's syndrome?

J. Henderson (Ottawa)

This classic presentation and catastrophic course of spontaneous esophageal perforation is that described by Hermann Boerhaave in 1724 [1, 2], and the characteristic symptoms of vomiting, chest pain, and surgical emphysema were emphasized by Mackler [3] in 1950 (Table I).
Table I. Boerhaave’s syndrome. Classic presenta

When such a clinical picture consistent with spontaneous esophageal perforation is present, it may be sufficiently informative for the diagnosis to be made over the telephone by an astute consultant [4]. However, in a collective review Loop and Groves [5] remarked that although Mackler's triad is pathognomonic of spontaneous esophageal perforation, in their experience at least one-third of spontaneous perforations were atypical. Further to this point, Walker et al. [6] found that less than half of their patients presented in typical fashion. Similarly, Pate et al. [7] in their review of a 30-year experience, concluded that classic features were so frequently absent, that reliance on this clinical picture could result in substantial error or delay in diagnosis (Table II).
Table II. Boerhaave’s syndrome. Atypical presen

Complete disruption of the esophagus with gross pleural contamination such as was found in Boerhaave's original case is very rare [8], and represents one extreme of spontaneous esophageal perforation, with very small perforations confined to the mediastinum at the other extreme. In the exceptional circumstances of a small and confined leak, symptoms may be absent or very mild [9, 10].

Moreover, the clinical setting of Boerhaave's syndrome may be unusual, even bizarre. For example, spontaneous esophageal perforation may be encountered in young women with food bingeing and auto-emesis, rather than in middle-aged male alcoholics. Pain or vomiting or both may be absent, subcutaneous emphysema impossible to detect, and chest radiographs either unrevealing or becoming abnormal only later in the course of the illness (Table III).
Table III. Boerhaav’se syndrome. Unusual clini

Physical signs and other clinical features may also be sufficiently unusual to turn diagnostic considerations away from spontaneous esophageal perforation (Table IV).

Several hundred cases of Boerhaave's syndrome have been recorded in the literature. The question of the frequency of atypical presentations is expressed in the ratio of atypical cases divided by typical cases. This quotient may be influenced by preferential reporting of those cases which are atypical, since these have the allure of novelty. On the other hand, more typical cases may not be published because of the humbling experience of an unexpected finding at autopsy [65], or because of deliberate exclusion of cases so diagnosed [66]. Moreover, autopsies may not be sought because of the misconception that detailed investigation by modern technology has already elucidated all diagnostic possibilities [67]. Fear of ensuing malpractice suits could also be a factor in decisions not to pursue autopsies, or not to publish the findings [68].
Table IV. Boerhaave’s syndrome. Un

With such caveats and considerations in mind, it would seem reasonable to accept that up to one half of cases of Boerhaave's syndrome may have atypical presentations. The remarkable diversity of these clinical presentations requires that clinical alertness and judgement of a high order be brought to bear on the cases of patients with Boerhaave's syndrome, if death or serious prolonged illness is to be prevented.

Acknowledgements

Tables III and IV are adapted and reprinted by permission of the publisher from [17].

References

1. Derbes VJ, Mitchell RE Jr. Herman Boerhaave Atrocis, nec descripti prius, morbi historia: the first translation of the classic case report of rupture of the esophagus, with annotations. Bull Med Libr Assoc 1955;43:217-240.

2. Lindeboom GA. Herman Boerhaave: atrocis, nec descripti prius, morbi historia. Facsimile of the first edition and of the first French translation. Niewkoop: B. De Graaf, 1964.

3. Mackler SA. Spontaneous rupture of the esophagus. An experimental and clinical study. Surg Gynecol Obstet 1952;95:345-356.

4. Levine PH, Kelley ML. Spontaneous perforation of the esophagus simulating acute pancreatitis. JAMA 1965;191:343-345.

5. Loop FD, Groves LK. Esophageal perforations (collective review). Ann Thorac Surg 1970;10:571-587.

6. Walker WS, Cameron EWJ, Walbaum PR. Diagnosis and management of spontaneous transmural rupture of the oesophagus (Boerhaave's syndrome). Br J Surg 1985;72:204-207.

7. Pate JW, Walker WA, Cole FH, Owen EW, Johnson WH. Spontaneous rupture of the esophagus: a 30-year experience. Ann Thorac Surg 1989;47:689-692.

8. Keet AD, Waters GA, MacGregor LA. Spontaneous contained transmural oesophageal rupture clinically resembling intramural rupture: a case report. S Afr Med J 1985;68:426-428.

9. Cameron JL, Kieffer RF, Hendrix TR, Mehigan DG, Baker RR. Selective operative management of contained intrathoracic esophageal disruptions. Ann Thor Surg 1979:27:404-408.