Wide-mouthed esophageal sacculations in Scleroderma
A 65-year-old woman presented with Raynaud's phenomenon, severe substernal burning, dyspnea on exertion, and postprandial coughing. Physical examination revealed a marked decrease in oral aperture, skin tightening, and bilateral diffuse rales on auscultation of the chest. A double-contrast upper gastrointestinal examination was performed.
The esophagus was dilated and flaccid with absent primary peristalsis below the thoracic inlet, a patulous gastroesophageal junction with multiple episodes of gastroesophageal reflux as far proximally as the thoracic inlet, and a nodular mucosa in the distal esophagus compatible with reflux esophagitis. Two wide-mouthed sacculations or diverticula were present.
Interstitial disease was present in both lungs. A nuclear scintigram with radiolabeled water revealed prolonged accumulation of radioactivity in the lower end of the thoracic esophagus, most likely resulting from a combination of slow emptying and gastroesophageal reflux. The scan also revealed two areas of persistent activity in the upper thoracic esophagus, presumably within these wide-mouthed diverticula. Esophageal manometry revealed absent peristaltic contractions in the thoracic esophagus as far proximally as the thoracic inlet. The findings on all these examinations were attributable to esophageal involvement by scleroderma.
Subsequent blood tests revealed hematologic findings of scleroderma, including a positive antinuclear antibody with a speckled pattern and a titer of 1:2560. The diagnosis was also confirmed by consultation with a rheumatologist. The patient had marked improvement of her reflux symptoms after treatment with high-dose proton pump inhibitors.
Wide-mouthed sacculations or diverticula have been well documented in the small bowel and colon in patients with scleroderma. These sacculations represent true diverticula and are thought to result from abnormal intestinal motility with outward ballooning of the bowel wall between asymmetric areas of smooth muscle fibrosis and atrophy. The sacculations in the esophagus are assumed to have a similar pathophysiologic basis, resulting from abnormal motility and asymmetric fibrosis and atrophy in the smooth muscle layer of the esophageal wall.
One of the wide mouthed sacculations was located in the upper thoracic esophagus above the aortic arch. This location is near the transition zone between striated and smooth muscle in the esophagus at the level of the aortic arch and these sacculations would not be expected to develop in regions of striated muscle. This transition zone is variable and may occur as far proximally as the thoracic inlet or the cervical esophagus. Absence of peristaltic contractions in the entire esophagus on manometry and absence of visible peristalsis by fluoroscopy was present in this patient.