A Rare Cause of Dysphagia and Weight Loss

Abstract

Mixed connective tissue disease (MCTD) is a rare connective tissue disorder with clinical features that overlap with systemic lupus erythematous, systemic sclerosis, and polymyositis. We report the case of a patient who presented with dysphagia, 25-lb weight loss, difficulty opening her mouth, and joint pain. Dysphagia workup showed a normal barium swallow and normal-appearing EGD but esophageal manometry consistent with severe dysmotility. Through further laboratory and imaging studies, the patient met the diagnostic criteria for MCTD. She had marked improvement in her dysphagia with steroids, biologic therapy, and intravenous immunoglobulin.

Keywords: Esophageal dysmotility; High-resolution esophageal manometry; Mixed connective tissue disease.

Fig. 1

The patient's initial EGD showed a Schatzki ring (arrow) (a) but was otherwise largely normal-appearing (b).

Fig. 2

The patient's initial high-resolution esophageal manometry showed low-amplitude contractions with swallowing consistent with ineffective esophageal motility.

Fig. 3

Repeat high-resolution esophageal manometry after 6 months of therapy showed an intact contraction pattern with mildly impaired relaxation of the lower esophageal sphincter. Esophageal motility was markedly improved with 70% normal swallows.