A Woman With Longstanding Dysphagia

Abstract

Question: A 70-year-old woman was referred to the endoscopy unit for dyspeptic symptoms. She had a prior history of mild dysphagia for >40 years without associated weight loss or anorexia. Her physical examination and laboratory tests were unremarkable. An upper gastrointestinal endoscopy showed circumferential narrowing of 4 cm in length of the distal esophagus with intact mucosa extending to the gastroesophageal junction (Figure A). Esophageal dilatation above the lesion was not noted, and the gastric cardia seemed normal. Barium swallow x-ray series showed smooth narrowing of the distal esophagus (Figure B). Computerized tomography scan of the chest and upper abdomen demonstrated circumferential thickening of the esophageal wall (>1 cm) in the lower esophagus (Figure C). Endoscopic biopsy of the distal esophagus extending to the muscularis mucosa layer did not reveal any pathologic findings. What is your diagnosis? Look on page 1362 for the answer and see the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI. Endoscopic ultrasound showed concentric thickening of the muscularis mucosa of approximately 5 cm in length with normal submucosa and muscularis propria layers consistent with diffuse esophageal leiomyomatosis (Figure D). Diffuse esophageal leiomyomatosis (DEL) is a benign neoplastic lesion characterized by circular and longitudinal layer smooth muscle proliferation within the wall of the entire esophagus.1Calabrese C. Fabbri A. Fusaroli P. et al.Diffuse esophageal leiomyomatosis: case report and review.Gastrointest Endosc. 2002; 55: 590-593Abstract Full Text Full Text PDF PubMed Scopus (15) Google Scholar DEL is frequently associated with Alport syndrome (hereditary nephropathy, visceral leiomyomatosis, cataracts, sensory deafness). Chest x-ray, barium swallow, computed tomography, magnetic resonance imaging, and endoscopy are useful in the detection of the disease, however endoscopic ultrasonography is highly sensitive and relatively specific for the diagnosis of DEL.1Calabrese C. Fabbri A. Fusaroli P. et al.Diffuse esophageal leiomyomatosis: case report and review.Gastrointest Endosc. 2002; 55: 590-593Abstract Full Text Full Text PDF PubMed Scopus (15) Google Scholar Endoscopic ultrasonography demonstrates uniform circumferential thickening of the muscular layer.2Hizawa K. Esaki M. Iwai K. et al.EUS in the diagnosis of diffuse esophageal leiomyomatosis.Gastrointest Endosc. 2002; 56: 764-767Abstract Full Text Full Text PDF PubMed Scopus (12) Google Scholar Typically, leiomyomatosis originates from the muscularis propria layer with or without muscularis mucosa. In our patient, thickening was only confined to the muscularis mucosa layer. To the best of our knowledge, we describe the first case of DEL originating only from the muscularis mucosa layer. Based on the patient's age and limited symptomatology, we opted for conservative management consisting of reassurance and periodic follow-up. Management depends on clinical symptoms. For asymptomatic patients, clinical and endoscopic follow-up is satisfactory. For symptomatic cases, esophageal resection is the optimal treatment.3Gupta V. Lal A. Sinha S.K. et al.Leiomyomatosis of the esophagus: experience over a decade.J Gastrointest Surg. 2009; 13: 206-211Crossref PubMed Scopus (17) Google Scholar