Luke Naveena, De Leon Inna Carmela, Azizi Shayan, Katz Seymour
NYU Langone Health, Internal Medicine, New York, NY, USA.
NYU Langone Medical Center, Division of Gastroenterology and Hepatology, New York, NY, USA.
Case Rep Gastroenterol. 2025 Apr 1;19(1):238-245. doi: 10.1159/000544941. eCollection 2025 Jan-Dec.
Cryptogenic multifocal ulcerative stenosing enteritis (CMUSE) is a rare and underrecognized small bowel disorder that often mimics Crohn's disease, leading to delays in diagnosis and misdirected treatment. Given its relapsing nature and resistance to conventional inflammatory bowel disease (IBD) therapies, CMUSE presents significant diagnostic and therapeutic challenges.
We present the case of a 41-year-old male with chronic anemia, fatigue, weight loss, and intermittent abdominal pain with melena, who remained undiagnosed for 9 years despite extensive evaluations. Imaging and endoscopy failed to identify a definitive cause, and management with TNF inhibitors and IL-12/IL-23 blockade provided only temporary relief. The patient required multiple surgical resections due to recurrent strictures. Pathological examination consistently revealed multifocal jejunal ulceration with stenosis but lacked granulomas, vasculitis, or systemic inflammatory markers, ultimately confirming CMUSE. Given its distinct pathology and treatment resistance, differentiating CMUSE from Crohn's disease is essential. The patient's ongoing management includes upadacitinib, a JAK1 inhibitor, which may help modulate immune pathways contributing to ulcer formation and stricture development.
This case underscores the need for heightened clinical recognition of CMUSE, particularly in patients with unexplained small bowel strictures and ulceration unresponsive to standard IBD therapies. Genetic testing may aid in distinguishing CMUSE from Crohn's disease, preventing unnecessary immunosuppressive treatments. Further research is necessary to establish effective, targeted therapies and improve outcomes for patients with this rare condition.
隐源性多灶性溃疡性狭窄性肠炎（CMUSE）是一种罕见且未得到充分认识的小肠疾病，常酷似克罗恩病，导致诊断延误和治疗方向错误。鉴于其复发性质以及对传统炎症性肠病（IBD）疗法的耐药性，CMUSE带来了重大的诊断和治疗挑战。
我们报告一例41岁男性患者，有慢性贫血、疲劳、体重减轻以及伴有黑便的间歇性腹痛，尽管进行了广泛评估，但9年来一直未确诊。影像学和内镜检查未能确定明确病因，使用肿瘤坏死因子抑制剂和白细胞介素12/白细胞介素23阻断剂治疗仅提供了暂时缓解。由于反复出现狭窄，患者需要多次手术切除。病理检查始终显示空肠多灶性溃疡伴狭窄，但缺乏肉芽肿、血管炎或全身炎症标志物，最终确诊为CMUSE。鉴于其独特的病理学和治疗耐药性，将CMUSE与克罗恩病区分开来至关重要。该患者目前的治疗包括使用JAK1抑制剂乌帕替尼，这可能有助于调节导致溃疡形成和狭窄发展的免疫途径。
该病例强调了提高对CMUSE临床认识的必要性，特别是在那些有无法解释的小肠狭窄和对标准IBD疗法无反应的溃疡患者中。基因检测可能有助于将CMUSE与克罗恩病区分开来，避免不必要的免疫抑制治疗。有必要进行进一步研究以建立有效的靶向治疗方法并改善这种罕见疾病患者的治疗效果。
