SHM Converge Scientific Abstract ePoster Gallery-Beyond the Skin and Muscle: A Case of Nxp2 Dermatomyositis With Unprecedented Gastrointestinal Catastrophe

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This case describes a 70-year-old woman with anti-NXP2 dermatomyositis who presented atypically, without classic skin findings, but with profound weight loss, progressive dysphagia, cognitive decline, falls, and marked muscle wasting over 18 months. Her muscle symptoms worsened over six months, and dysphagia progressed until she could no longer keep food down. She then developed severe right lower quadrant abdominal pain and distension, and imaging revealed extensive pneumoperitoneum from a perforated gastric/colonic process. Surgery found three colonic perforations, requiring emergent laparotomy, total abdominal colectomy, and end ileostomy.<br /><br />Her workup showed very elevated inflammatory markers, elevated aldolase, normal creatine kinase, normal brain MRI, and a strongly positive anti-NXP2 antibody with a high ANA titer, while other autoimmune, infectious, and neurologic studies were negative. These findings supported the diagnosis of NXP2 dermatomyositis.<br /><br />The authors emphasize that dermatomyositis can present without obvious dermatologic features, making diagnosis challenging. Anti-NXP2 in adults is associated with severe myositis, dysphagia, edema, calcinosis, and malignancy risk, and this case highlights an especially rare and dangerous gastrointestinal complication. Although GI perforation has been described more often in juvenile dermatomyositis, this adult patient developed life-threatening multisite bowel perforation.<br /><br />Treatment included monthly intravenous immunoglobulin, started during hospitalization, and temporary PEG tube placement for persistent dysphagia. Her swallowing later improved enough to advance to a pureed diet.<br /><br />The main conclusion is that clinicians should consider dermatomyositis, especially anti-NXP2 disease, in patients with unexplained dysphagia and proximal weakness, even without rash, because early recognition and aggressive immunomodulatory therapy may help prevent catastrophic GI complications.

Asset Subtitle

Alexandra Arges

Meta Tag

Author List Alexandra Arges, Amisha S. Mehta, Karen A. Clarke, Prateek Gandiga, Sathyabama Naidu

Category Clinical Vignettes

Concept Dermatomyositis

Concept Anti-NXP2 Antibodies

Concept Proximal Muscle Weakness

Concept Bowel Perforation

Concept Atypical Presentation

Distinguished Non-Finalist

Presenter Organization Emory University

Presenting Author Alexandra Arges

Track Adult

Keywords

anti-NXP2 dermatomyositis

dermatomyositis

dysphagia

muscle wasting

colonic perforation

gastrointestinal perforation

intravenous immunoglobulin

proximal weakness

weight loss

end ileostomy

Dermatomyositis

Anti-NXP2 Antibodies

Proximal Muscle Weakness

Bowel Perforation

Atypical Presentation