What are the histologic features of diffuse esophageal spasm (DES) ?
H.D. Appelman (Ann Arbor)
If DES is defined as the clinical syndrome characterized by intermittent dysphagia and retrosternal pain, with the characteristic cork-screw appearance on the barium study of the esophagus and characteristic changes in motor function manometrically defined as repetitive and simultaneous contractions in the esophageal body in the presence of normal peristalsis and a normally relaxing lower sphincter, then it is obvious we do not know any of the morphologic changes.
There has been an attempt to relate this clinical and radiographic syndrome to idiopathic muscular hypertrophy, a condition in which there is massive thickening
of the esophageal muscularis propria . However, the evidence supporting this linkage is scanty.
Perhaps the most compelling argument against this association results from the study by Chen, et al. in which 17 patients with the clinical syndrome of DES were analyzed radiographically, and it was found that the mean thickness of the esophageal wall in both DES patients and in normal controls was the same, thus ruling out the co-existence of idiopathic muscular hypertrophy . On the other hand, Ferguson et al. studied 14 patients with the clinical syndrome of DES who were treated with myotomies, at the time of which the inner circular muscle layer of the sphincter was markedly thickened, and histologic examination of the myotomy specimens in several patients revealed normal ganglion cells in the myenteric plexus .
Several studies of idiopathic muscular hypertrophy have been published. In one by Demian and Vargas-Cortes, all 6 cases were discovered at autopsy. Only one of the patients had any esophageal symptoms, and these were intermittent dysphagia for 4 years before death. His radiographic studies were nothing like typical ones in DES . Six cases reported by Iyer, et al. as diffuse muscular hypertrophy included 4 patients with diabetes. None of the six patients had the typical clinical syndrome of DES .
Finally, some patients reported to have DES have had morphologic changes similar to those in achalasia, including loss of small nerve fibers and loss of ganglion cells [6, 7]. Whether this indicates that some cases of DES are really forms of achalasia remains to be seen. Certainly, established cases of achalasia rarely seem to be preceded by the DES syndrome. Nevertheless, the familial occurrence of both DES and achalasia suggests that they are related .
In summary, a statement by Bennett and Hendrix in a discussion on DES twenty years ago still holds « So little is known of the pathological changes associated with this syndrome (DES) that their contribution to a discussion of etiologic categories is small» .
1. Enterline H, Thompson J (1984) Motility disorders of the esophagus and spontaneous rupture of the esophagus, in : Pathology of the esophagus, Enterline H and Thompson J, Springer-Verlag, New York, chapter 4, p. 59-62.