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Background <p>Yao syndrome (YAOS) is a <i>NOD2</i>-associated autoinflammatory disease characterized by periodic fevers, dermatitis, polyarthritis, swelling of the distal extremities, and gastrointestinal symptoms in patients with specific <i>NOD2</i> variants. While gastrointestinal symptoms are a hallmark of the disease, little is known about specific symptoms and their underlying mechanisms.</p> Methods <p>In this study, we identified 24 patients with YAOS from an institutional YAOS databse. We evaluated their presenting gastrointestinal symptoms at initial presentation via the validated Gastrointestinal Symptom Rating Scale questionnaire, which 14 participants filled out. We then systematically analyzed all gastrointestinal-relevant blood work, stool studies, imaging, endoscopies, and motility testing.</p> Results <p>Gastrointestinal symptoms were reported by 100% of patients, with the most prominent symptom being bloating. Most of the workup including stool testing, gastrointestinal-related bloodwork, and endoscopic examinations with biopsies was normal. Abdominopelvic radiographs and cross-sectional imaging studies were most often normal, although an excessive stool burden was commonly identified. A minority of patients had associated diagnoses of collagenous gastritis, celiac disease, autoimmune-like enteropathy, or microscopic colitis. Gastric and colonic motility testing was normal in most patients; however, anorectal manometry with balloon expulsion testing was abnormal in 100% of tested patients. A minority of patients had hepatic steatosis or benign liver lesions.</p> Conclusions <p>Gastrointestinal symptoms of YAOS are universal and severe, and symptoms may arise from both inflammatory and non-inflammatory mechanisms. Bloating and constipation may be driven by dyssynergic defecation.</p>

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Gastrointestinal Manifestations of Yao Syndrome (NOD2-Associated Autoinflammatory Disease)

  • 期刊论文

  • 发表日期：

    2025年7月25日

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  • John A. Damianos,
  • Avinash K. Nehra,
  • Joseph A. Murray,
  • Edward V. Loftus Jr.,
  • John M. Davis III,
  • Vandana Nehra

摘要

Background

Yao syndrome (YAOS) is a NOD2-associated autoinflammatory disease characterized by periodic fevers, dermatitis, polyarthritis, swelling of the distal extremities, and gastrointestinal symptoms in patients with specific NOD2 variants. While gastrointestinal symptoms are a hallmark of the disease, little is known about specific symptoms and their underlying mechanisms.

Methods

In this study, we identified 24 patients with YAOS from an institutional YAOS databse. We evaluated their presenting gastrointestinal symptoms at initial presentation via the validated Gastrointestinal Symptom Rating Scale questionnaire, which 14 participants filled out. We then systematically analyzed all gastrointestinal-relevant blood work, stool studies, imaging, endoscopies, and motility testing.

Results

Gastrointestinal symptoms were reported by 100% of patients, with the most prominent symptom being bloating. Most of the workup including stool testing, gastrointestinal-related bloodwork, and endoscopic examinations with biopsies was normal. Abdominopelvic radiographs and cross-sectional imaging studies were most often normal, although an excessive stool burden was commonly identified. A minority of patients had associated diagnoses of collagenous gastritis, celiac disease, autoimmune-like enteropathy, or microscopic colitis. Gastric and colonic motility testing was normal in most patients; however, anorectal manometry with balloon expulsion testing was abnormal in 100% of tested patients. A minority of patients had hepatic steatosis or benign liver lesions.

Conclusions

Gastrointestinal symptoms of YAOS are universal and severe, and symptoms may arise from both inflammatory and non-inflammatory mechanisms. Bloating and constipation may be driven by dyssynergic defecation.