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.

The Impact of Dysphagia in Myositis: A Systematic Review and Meta-Analysis

“…Various authors reported reduced or absent esophageal motility sometimes extending to the lower esophageal sphincter [ 29 , 38 , 114 ]. Most studies used manometry [ 24 , 29 , 38 , 59 , 85 , 90 , 98 , 105 , 114 , 117 , 118 , 119 , 122 , 129 , 130 ] some also VFSS, barium swallow or scintigraphy [ 62 , 73 , 81 , 89 , 99 , 104 , 120 , 121 , 124 , 125 , 127 ] to detect esophageal impairment.…”

“…There are several articles reporting positive therapeutic effects of immunomodulatory medication on symptoms and/or on findings of objective swallowing evaluations. These include intravenous methylprednisolone pulse therapy [ 19 , 33 , 70 , 81 , 87 , 134 , 154 , 155 , 156 , 157 , 158 , 159 ], methotrexate [ 30 , 76 , 89 , 124 , 136 , 154 , 159 , 160 , 161 ], long-term prednisone/prednisolone [ 29 , 30 , 33 , 59 , 64 , 70 , 74 , 76 , 81 , 83 , 84 , 87 , 89 , 101 , 103 , 111 , 118 , 122 , 124 , 134 , 136 , 143 , 154 , 158 , 159 , 161 , 162 , 163 , 164 , 165 ,…”

“…IIM can result in impairment of the oral [29,[58][59][60][61][62][63][64], pharyngeal [7,23,24,27,29,[31][32][33]44, and esophageal [24,29,38,59,62,73,81,85,89,90,93,95,98,99,101,[103][104][105]112,[114][115][116][117][118][119][120][121][122][123][124][125][126][127][128][129]…”

“…There are several articles reporting positive therapeutic effects of immunomodulatory medication on symptoms and/or on findings of objective swallowing evaluations. These include intravenous methylprednisolone pulse therapy [ [173,177,178], hydroxychloroquine [30,118,154], tacrolimus [162,172], cyclophosphamide [83,170,172], mycophenolate mofetil [118,179], cyclosporine [123] and rituximab [155]. If dysphagia does not respond to medical therapy, it may be helpful to switch to another group of medication, e.g., from steroids to IVIG [24].…”

Systemic toxicity of chloroquine and hydroxychloroquine: prevalence, mechanisms, risk factors, prognostic and screening possibilities

“…Acute and chronic audiovestibular manifestations are also reported [127] including tinnitus, vertigo, hearing loss and deafness [128 , 129] . 4-AQ can also cause dysphagia, due to its muscle toxicity [130] .…”