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A Diagnostic Dilemma: High-Grade Appendiceal Mucinous Neoplasm Presenting as Acute Appendicitis in a 16-Year-Old Female - Case Report and Literature Review. 诊断困境:16岁女性阑尾高级别黏液性肿瘤表现为急性阑尾炎病例报告及文献复习。
IF 0.6 Q4 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2026-01-13 eCollection Date: 2026-01-01 DOI: 10.1159/000550074
Madhuri Singh, Charusheela Gore, Sushama Gurwale, Jhasnavi Mandala, Apoorva Makan

Introduction: High-grade appendiceal mucinous neoplasms (HAMNs) are rare mucin-producing epithelial tumors of the appendix, typically seen in middle-aged to elderly individuals. They are defined by high-grade cytologic atypia and complex architecture but without infiltrative invasion. Occurrence in pediatric or adolescent patients is virtually unknown.

Case presentation: We report a 16-year-old female who presented with signs and symptoms suggestive of acute appendicitis. Ultrasonography supported the diagnosis. A laparoscopic appendectomy was performed. Gross examination revealed a dilated appendix with mucoid contents. Histopathological evaluation confirmed HAMN confined to the appendix.

Conclusion: To our knowledge, this is the second reported case of HAMN in an adolescent. This case underscores the importance of histopathologic evaluation of all appendectomy specimens, even in young patients, due to the possibility of underlying neoplasia.

高级别阑尾黏液性肿瘤(HAMNs)是一种罕见的阑尾黏液生成上皮性肿瘤,常见于中老年人。它们以高度的细胞学非典型性和复杂的结构为特征,但没有浸润性侵袭。发生在儿童或青少年患者几乎是未知的。病例介绍:我们报告了一位16岁的女性,她表现出急性阑尾炎的体征和症状。超声检查证实了诊断。施行腹腔镜阑尾切除术。大体检查显示阑尾扩张伴黏液内容物。组织病理学检查证实HAMN局限于阑尾。结论:据我们所知,这是第二例报告的青少年HAMN病例。本病例强调了对所有阑尾切除术标本进行组织病理学评估的重要性,即使是年轻患者,因为可能存在潜在的肿瘤。
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引用次数: 0
Hepatic Angiosarcoma Associated with Chronic Schistosomiasis in a Patient with Decompensated Cirrhosis: A Rare Case Report. 肝硬化失代偿患者肝血管肉瘤合并慢性血吸虫病:罕见病例报告。
IF 0.6 Q4 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-12-24 eCollection Date: 2026-01-01 DOI: 10.1159/000549935
Thaer Swaid, Carl Kassab, Najla Saleh Ben Ghashir, Saeed Husain Al Marzooqi

Introduction: Hepatic angiosarcoma (HA) is a rare endothelial malignancy with poor prognosis. Chronic Schistosoma infection causes periportal fibrosis and portal hypertension, but has not been established as a risk factor for hepatic vascular tumors. We report a case of high-grade HA coexisting with chronic schistosomiasis in a patient presenting with acute decompensated cirrhosis.

Case presentation: A 64-year-old Filipino woman with no known chemical exposures presented with progressive abdominal pain, jaundice, ascites, and hepatic encephalopathy. Doppler ultrasound initially suggested Budd-Chiari syndrome, later excluded on advanced imaging. MRI showed multifocal hepatic lesions, and CT demonstrated multiple intra-abdominal hematomas without active bleeding. Liver biopsy confirmed poorly differentiated HA (CD31+/CD34+) and revealed calcified Schistosoma eggs. Her course was complicated by hemorrhagic shock after biopsy and paracentesis, spontaneous bacterial peritonitis, acute kidney injury, and worsening hepatic encephalopathy. She died despite aggressive supportive care.

Conclusion: This case illustrates the diagnostic challenges and rapid progression of HA, especially in coagulopathic patients where biopsy carries significant risk. The coexistence of chronic schistosomiasis raises the possibility of parasitic inflammation contributing to hepatic vascular tumorigenesis. HA should be considered among unexplained hepatic masses with atypical imaging and clinical features.

肝血管肉瘤(HA)是一种罕见的内皮恶性肿瘤,预后差。慢性血吸虫感染可引起门静脉周围纤维化和门静脉高压,但尚未确定其为肝血管肿瘤的危险因素。我们报告一例高级别HA合并慢性血吸虫病的病例,患者表现为急性失代偿性肝硬化。病例介绍:一名64岁菲律宾妇女,没有已知的化学接触,表现为进行性腹痛、黄疸、腹水和肝性脑病。多普勒超声最初提示Budd-Chiari综合征,后来排除了晚期影像学检查。MRI显示肝脏多灶性病变,CT显示腹内多发血肿,无活动性出血。肝活检证实低分化HA (CD31+/CD34+)和钙化血吸虫卵。她的病程因活检和穿刺后失血性休克、自发性细菌性腹膜炎、急性肾损伤和肝性脑病恶化而复杂化。尽管进行了积极的支持性治疗,她还是去世了。结论:该病例说明了HA的诊断挑战和快速进展,特别是在凝血障碍患者中,活检具有显著的风险。慢性血吸虫病的共存增加了寄生炎症促进肝血管肿瘤发生的可能性。在影像学和临床特征不典型的不明原因肝脏肿块中应考虑HA。
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引用次数: 0
Immunohistochemical Staining for Disseminated Carcinomatosis of the Bone Marrow in a Patient with Post-Colonoscopy Colorectal Cancer: A Case Report. 结肠镜检查后结直肠癌患者骨髓播散性癌的免疫组织化学染色:1例报告。
IF 0.6 Q4 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-12-15 eCollection Date: 2025-01-01 DOI: 10.1159/000549280
Tomoaki Mochimaru, Kazumasa Kawashima, Michio Onizawa, Yu Watahiki, Yosuke Takahata, Mai Murakami, Kakeru Otomo, Tomoyuki Asano, Shuhei Yoshida, Satoshi Kawana, Naohiko Gunji, Yuko Hashimoto, Takuto Hikichi, Hiromasa Ohira

Introduction: The incidence of disseminated carcinomatosis of the bone marrow (DCBM) associated with colorectal cancer is low, but it can rapidly progress and cause even death. A previous study has suggested a relationship between mucin profiles and the prognosis of colorectal cancer. However, there are no reports of mucin staining in cases of DCBM with post-colonoscopy colorectal cancer (PCCRC).

Case presentation: A 58-year-old man who had undergone colonoscopy (CS) 1 year ago complained of fatigue and fever. The man was diagnosed with virus-associated hemophagocytic syndrome and received steroid pulse therapy. Despite treatment, his condition deteriorated. 18F-fluorodeoxyglucose positron emission tomography-computed tomography revealed diffuse uptake in the bone marrow. A bone marrow biopsy revealed atypical CK20-positive and CK7-negative cellular nests, suggesting a primary gastrointestinal tumor. Subsequent CS at our hospital revealed a 30-mm type 4 transverse colorectal cancer lesion. Thus, the patient was diagnosed with DCBM associated with PCCRC. The patient died 18 days after his last CS. Mucin staining revealed that the cancer cells were MUC2-positive and MUC5AC-negative. MUC5AC negativity has been associated with poor prognosis in colorectal cancer and may have suggested rapid disease progression.

Conclusion: The mucin staining result of MUC5AC negativity suggested rapid disease progression and poor prognosis in this case.

导读:与结直肠癌相关的弥散性骨髓癌(DCBM)发病率低,但进展迅速,甚至可导致死亡。先前的一项研究表明粘蛋白谱与结直肠癌预后之间存在关系。然而,在DCBM合并结肠镜后结直肠癌(PCCRC)的病例中,没有粘蛋白染色的报道。病例介绍:一名58岁男性,1年前接受结肠镜检查(CS),主诉疲劳和发烧。该男子被诊断为病毒相关的噬血细胞综合征,并接受类固醇脉冲治疗。尽管接受了治疗,他的病情还是恶化了。18f -氟脱氧葡萄糖正电子发射断层扫描显示骨髓弥漫性摄取。骨髓活检显示ck20阳性和ck7阴性的非典型细胞巢,提示原发性胃肠道肿瘤。随后在我们医院的CS显示一个30mm的4型横向结直肠癌病变。因此,患者被诊断为DCBM合并PCCRC。患者在最后一次CS术后18天死亡。Mucin染色显示癌细胞muc2阳性,muc5ac阴性。MUC5AC阴性与结直肠癌预后不良相关,可能提示疾病进展迅速。结论:MUC5AC阴性的粘蛋白染色提示本病进展快,预后差。
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引用次数: 0
Endoscopic Ultrasound-Guided Pelvic Abscess Drainage Especially for Pediatric Patients: A Report of Two Cases. 超声内镜下小儿盆腔脓肿引流术:附2例报告。
IF 0.6 Q4 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-12-15 eCollection Date: 2026-01-01 DOI: 10.1159/000550073
Yusaku Yokotani, Hiroaki Kitae, Shun Takakura, Naoaki Akamatsu, Koichi Soga

Introduction: Endoscopic ultrasound-guided pelvic abscess drainage (EUS-PAD) was reported for the first time in 2003. However, there were few reports focused on EUS-PAD in pediatric patients beforehand. This procedure is one of the minimally invasive methods of treating pelvic abscess, which is close to the rectum. Here, we report the cases of two pediatric patients who underwent EUS-PAD.

Case presentation: Two pediatric patients were referred to our hospital for the treatment of pelvic abscesses associated with appendicitis. Using endoscopic ultrasound (EUS) guidance, a pelvic abscess was identified adjacent to the rectal wall. After successive dilatation through a guidewire during fluoroscopic imaging, the deployment of one or two double pigtail stents was performed. Following successful stent deployment, both patients experienced good courses without any complications. After addressing the consequences of complicated appendicitis, both patients underwent laparoscopic appendectomy, which resulted in favorable postoperative courses.

Conclusions: EUS-guided drainage can be considered a safe and effective method for primarily dealing with pelvic abscesses and as an efficacious bridge-to-surgery strategy for pediatric patients.

超声内镜引导下盆腔脓肿引流术(EUS-PAD)于2003年首次报道。然而,此前很少有关于EUS-PAD在儿科患者中的应用的报道。该手术是治疗盆腔脓肿的微创方法之一,盆腔脓肿靠近直肠。在这里,我们报告了两例接受EUS-PAD的儿科患者。病例介绍:两名儿童患者转介到我院治疗盆腔脓肿合并阑尾炎。在超声内镜(EUS)的指导下,盆腔脓肿被发现邻近直肠壁。在透视成像期间通过导丝连续扩张后,部署一个或两个双辫子支架。支架置入成功后,两名患者均经历了良好的疗程,无任何并发症。在解决了复杂阑尾炎的后果后,两名患者都接受了腹腔镜阑尾切除术,这导致了良好的术后过程。结论:eus引导下引流是一种安全有效的治疗盆腔脓肿的方法,是儿科患者手术前的有效过渡策略。
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引用次数: 0
Denture Ingestion, Gastrointestinal Transit and Subsequent Complications in a 75-Year-Old Male: A Case Report. 75岁男性假牙摄入、胃肠道转运及并发症1例报告。
IF 0.6 Q4 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-12-12 eCollection Date: 2025-01-01 DOI: 10.1159/000549436
Terry R Wagner, Sem F Hardon, Frank C den Boer, Jorn P Meekel

Introduction: Foreign body ingestion is a common clinical occurrence, often resolving spontaneously as the object passes through the gastrointestinal tract. We present a unique case of sigmoid perforation with an associated local abscess, successfully managed with sigmoidectomy and direct anastomosis.

Case presentation: A 75-year-old male presented to the emergency department after accidentally ingesting his dentures. Conservative management was attempted initially. Four days later, the patient developed abdominal pain. Computed tomography scan revealed signs of perforation, and diagnostic laparoscopy confirmed a sigmoid perforation with a localized abscess. A sigmoidectomy with end-to-end circular stapled anastomosis was performed, during which the dentures were mobilized retrogradely to enable controlled extraction, leading to a full and rapid recovery.

Conclusion: This case highlights the potential complications and occasional need for surgery due to ingested foreign bodies and the importance of accurate diagnosis and vigilant monitoring in managing these patients.

简介:异物误食是临床上常见的一种疾病,常随着异物通过胃肠道而自行消退。我们提出一个独特的病例乙状结肠穿孔与相关的局部脓肿,成功地处理乙状结肠切除术和直接吻合。病例介绍:一名75岁男性因误食假牙而被送往急诊科。最初尝试了保守管理。4天后,患者出现腹痛。计算机断层扫描显示穿孔迹象,诊断性腹腔镜证实乙状结肠穿孔伴局部脓肿。行乙状结肠切除术,端到端环形吻合术,逆行移动义齿,控制拔牙,完全快速恢复。结论:本病例强调了因摄入异物可能引起的并发症和偶尔需要手术治疗,以及准确诊断和警惕监测在治疗这些患者中的重要性。
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引用次数: 0
Life-Threatening Upper Gastrointestinal Bleeding following Percutaneous Endoscopic Gastrostomy Tube Removal under Traction: A Case Report. 经皮内镜胃造口管牵引下拔除后危及生命的上消化道出血1例报告。
IF 0.6 Q4 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-12-04 eCollection Date: 2026-01-01 DOI: 10.1159/000548125
Christopher J Shephard, Xiaomin Ma, Rozemary Karamatic

Introduction: Percutaneous endoscopic gastrostomy (PEG) tubes are commonly used to facilitate long-term enteral nutrition. Selected PEG tubes may be appropriately removed without endoscopic guidance via gentle traction, which is seldom associated with major bleeding sequelae. Rare reports of major upper gastrointestinal (GI) hemorrhage following PEG tube removal have been managed using Foley catheter balloon tamponade or endoscopic over-the-scope clipping. Prompt reinsertion of a PEG tube may also be considered.

Case presentation: We present the case of a multi-morbid 73-year-old female who experienced life-threatening hemodynamically unstable upper GI bleeding following traction PEG tube removal, which proved refractory to standard endoscopic measures of adrenaline injection and hemostatic clipping, as well as rotational thromboelastometry-guided correction of consumptive coagulopathy. There was no suitable target for angioembolization. Ultimately, in the context of continued hemodynamically unstable GI bleeding, definitive surgical hemostasis - a mode of intervention not frequently reported for bleeding of this nature - was achieved during emergency laparotomy via complete excision of the PEG tract and wedge excision of the involved stomach wall.

Conclusion: Life-threatening hemodynamically unstable GI bleeding rarely complicates traction PEG tube removal. In elderly patients with multiple comorbidities, PEG tract bleeding refractory to standard endotherapy and not targetable by angioembolization can be safely and effectively managed with timely surgical intervention.

简介:经皮内镜胃造口术(PEG)管通常用于促进长期肠内营养。选择的PEG管可以在没有内窥镜引导的情况下通过温和的牵引适当地切除,这很少与大出血后遗症有关。采用Foley导管球囊填塞或内镜下镜内夹持术治疗PEG管拔除后的上消化道出血。也可以考虑立即重新插入PEG管。病例介绍:我们报告了一名73岁的多病女性,她在牵引PEG管拔除后经历了危及生命的血流动力学不稳定的上消化道出血,这对标准的内窥镜肾上腺素注射和止血夹以及旋转血栓弹性测量指导的消耗性凝血病纠正是难治的。没有合适的血管栓塞靶点。最终,在持续血流动力学不稳定的胃肠道出血的情况下,在紧急剖腹手术中通过完全切除PEG束和楔形切除受损伤的胃壁实现了明确的手术止血——这是一种不常报道的干预这种性质的出血的方式。结论:危及生命的血流动力学不稳定的消化道出血很少并发症牵引式PEG管拔除。对于合并多种合并症的老年患者,PEG道出血对标准内镜治疗难治,血管栓塞治疗无靶向性,通过及时的手术干预可以安全有效地处理。
{"title":"Life-Threatening Upper Gastrointestinal Bleeding following Percutaneous Endoscopic Gastrostomy Tube Removal under Traction: A Case Report.","authors":"Christopher J Shephard, Xiaomin Ma, Rozemary Karamatic","doi":"10.1159/000548125","DOIUrl":"10.1159/000548125","url":null,"abstract":"<p><strong>Introduction: </strong>Percutaneous endoscopic gastrostomy (PEG) tubes are commonly used to facilitate long-term enteral nutrition. Selected PEG tubes may be appropriately removed without endoscopic guidance via gentle traction, which is seldom associated with major bleeding sequelae. Rare reports of major upper gastrointestinal (GI) hemorrhage following PEG tube removal have been managed using Foley catheter balloon tamponade or endoscopic over-the-scope clipping. Prompt reinsertion of a PEG tube may also be considered.</p><p><strong>Case presentation: </strong>We present the case of a multi-morbid 73-year-old female who experienced life-threatening hemodynamically unstable upper GI bleeding following traction PEG tube removal, which proved refractory to standard endoscopic measures of adrenaline injection and hemostatic clipping, as well as rotational thromboelastometry-guided correction of consumptive coagulopathy. There was no suitable target for angioembolization. Ultimately, in the context of continued hemodynamically unstable GI bleeding, definitive surgical hemostasis - a mode of intervention not frequently reported for bleeding of this nature - was achieved during emergency laparotomy via complete excision of the PEG tract and wedge excision of the involved stomach wall.</p><p><strong>Conclusion: </strong>Life-threatening hemodynamically unstable GI bleeding rarely complicates traction PEG tube removal. In elderly patients with multiple comorbidities, PEG tract bleeding refractory to standard endotherapy and not targetable by angioembolization can be safely and effectively managed with timely surgical intervention.</p>","PeriodicalId":9614,"journal":{"name":"Case Reports in Gastroenterology","volume":"20 1","pages":"16-22"},"PeriodicalIF":0.6,"publicationDate":"2025-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12810975/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145997379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Colonic Mucosal Pseudolipomatosis with Hemorrhage: A Case Report of Peracetic Acid-Induced Pathogenesis. 结肠粘膜假性脂肪瘤合并出血:过氧乙酸致发病1例。
IF 0.6 Q4 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-11-24 eCollection Date: 2025-01-01 DOI: 10.1159/000548927
Chunxia Wang, Yu Zhong, Rihua Zheng

Introduction: Colonic mucosal pseudolipomatosis (CMP) is a rare mucosal lesion of the colon. Most patients are asymptomatic, while some present with abdominal pain, diarrhea, or bloating. However, cases complicated by hemorrhage are extremely rare and have not been previously reported. Endoscopically, CMP manifests as solitary or multiple scattered white plaques in intestinal segments, manifesting as a "snow-white sign."

Case presentation: This article reports a case of CMP with hemorrhage following colonoscopy.

Conclusion: With the increasing incidence of CMP in recent years, endoscopists have gained deeper insights into this lesion. The vigilance is warranted for its potential association with hemorrhage. In addition, in order to avoid such iatrogenic injury, endoscope disinfection monitoring should be paid more attention.

摘要结肠黏膜假性脂瘤病是一种罕见的结肠粘膜病变。大多数患者无症状,但部分患者出现腹痛、腹泻或腹胀。然而,合并出血的病例极为罕见,以前没有报道过。内窥镜下,CMP表现为孤立或多个分散在肠段的白色斑块,表现为“雪白征”。病例介绍:本文报告一例CMP合并结肠镜检查后出血的病例。结论:近年来,随着CMP发病率的增加,内镜医师对CMP病变有了更深入的了解。警惕是有必要的,因为它可能与出血有关。此外,为避免此类医源性损伤,应重视内窥镜消毒监测。
{"title":"Colonic Mucosal Pseudolipomatosis with Hemorrhage: A Case Report of Peracetic Acid-Induced Pathogenesis.","authors":"Chunxia Wang, Yu Zhong, Rihua Zheng","doi":"10.1159/000548927","DOIUrl":"10.1159/000548927","url":null,"abstract":"<p><strong>Introduction: </strong>Colonic mucosal pseudolipomatosis (CMP) is a rare mucosal lesion of the colon. Most patients are asymptomatic, while some present with abdominal pain, diarrhea, or bloating. However, cases complicated by hemorrhage are extremely rare and have not been previously reported. Endoscopically, CMP manifests as solitary or multiple scattered white plaques in intestinal segments, manifesting as a \"snow-white sign.\"</p><p><strong>Case presentation: </strong>This article reports a case of CMP with hemorrhage following colonoscopy.</p><p><strong>Conclusion: </strong>With the increasing incidence of CMP in recent years, endoscopists have gained deeper insights into this lesion. The vigilance is warranted for its potential association with hemorrhage. In addition, in order to avoid such iatrogenic injury, endoscope disinfection monitoring should be paid more attention.</p>","PeriodicalId":9614,"journal":{"name":"Case Reports in Gastroenterology","volume":"19 1","pages":"773-776"},"PeriodicalIF":0.6,"publicationDate":"2025-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12705116/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145766931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Iatrogenic Intramural Esophageal Dissection in Eosinophilic Esophagitis: A Rare Complication of Diagnostic Endoscopy in a Young Atopic Patient - Case Report and Review. 嗜酸性粒细胞性食管炎的医源性壁内食管夹层:一种罕见的年轻特应性患者内镜诊断并发症-病例报告与回顾。
IF 0.6 Q4 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-11-21 eCollection Date: 2025-01-01 DOI: 10.1159/000548860
Thaer Swaid, Layth Hamzeh, Maryam Al Ahmad, Sulaman Magdub, Ishtiaq Ahmed

Introduction: Eosinophilic esophagitis (EoE) is a chronic, immune-mediated esophageal disease characterized by eosinophilic infiltration of the esophageal mucosa, leading to symptoms of esophageal dysfunction. Common presentations include dysphagia, food impaction, and chest discomfort, often in patients with a history of atopy.

Case presentation: This case report highlights an atypical outcome of EoE, intramural esophageal dissection, in a young adult patient post-endoscopy.

Conclusion: This case report emphasizes the importance of early recognition and treatment to prevent long-term complications, both pathological and iatrogenic.

嗜酸性粒细胞性食管炎(EoE)是一种慢性、免疫介导的食管疾病,其特征是食管粘膜嗜酸性粒细胞浸润,导致食管功能障碍症状。常见的表现包括吞咽困难、食物嵌塞和胸部不适,通常见于有特应性病史的患者。病例介绍:这个病例报告强调了一个不典型的结果EoE,壁内食管夹层,在一个年轻的成人患者内镜检查后。结论:本病例报告强调早期识别和治疗对于预防长期病理性和医源性并发症的重要性。
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引用次数: 0
High-Dose Upadacitinib Maintenance Therapy for Refractory Crohn's Disease: A Case Series and Review of the Literature. 高剂量Upadacitinib维持治疗难治性克罗恩病:病例系列和文献综述
IF 0.6 Q4 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-11-20 eCollection Date: 2026-01-01 DOI: 10.1159/000549674
Yousef Alfadhli, Reem Kermani, Mohammad Shehab

Introduction: Crohn's disease (CD) is a chronic, relapsing-remitting disorder affecting the gastrointestinal tract that falls under the umbrella term of inflammatory bowel disease (IBD). Its etiology is unknown, but it is suggested that there is a strong genetic and environmental interaction, leading to its development. The mainstay of treatment for patients with moderate to severe CD is advanced therapy, such as biologics or small molecules. Despite the use of these medications, the disease may be unresponsive to these agents, leading to refractory disease. The use of novel therapies expanded the treatment options for patients with refractory CD or those who failed multiple biologics. Upadacitinib (UPA), a small molecule drug, belongs to a class of medications known as Janus kinase (JAK) inhibitors. UPA is known to be effective against CD with a dosage of either 15 or 30 mg. However, this dose deemed to be ineffective in the cases we reported. A higher maintenance dose of 45 mg was introduced and the patient's reported resolution of symptoms. It is important to note that larger studies are required to prove the efficacy of this treatment for CD.

Case presentations: This is a case-series of 3 patients with a history of refractory CD and prior exposure to at least 1 biologic agent, who achieved clinical remission and endoscopic healing on UPA maintenance therapy 45 mg orally once daily.

Conclusion: This case series illustrates potential benefit and supports the rationale for larger controlled studies evaluating high-dose UPA maintenance therapy.

克罗恩病(CD)是一种影响胃肠道的慢性、复发缓解型疾病,属于炎症性肠病(IBD)的总称。其病因尚不清楚,但有人认为有很强的遗传和环境相互作用,导致其发展。中重度乳糜泻患者的主要治疗方法是高级治疗,如生物制剂或小分子药物。尽管使用了这些药物,但疾病可能对这些药物无反应,导致难治性疾病。新疗法的使用扩大了难治性乳糜泻患者或多种生物制剂治疗失败患者的治疗选择。Upadacitinib (UPA)是一种小分子药物,属于一类被称为Janus激酶(JAK)抑制剂的药物。已知UPA对乳糜泻有效,剂量为15或30毫克。然而,在我们报道的病例中,这个剂量被认为是无效的。采用较高的维持剂量45mg,患者报告症状消退。值得注意的是,需要更大规模的研究来证明这种治疗CD的疗效。病例介绍:这是一个病例系列,有难治性CD病史的3例患者,之前暴露于至少1种生物制剂,通过每日一次口服45毫克的UPA维持治疗获得临床缓解和内镜下愈合。结论:该病例系列说明了潜在的益处,并支持了评估大剂量UPA维持治疗的大型对照研究的基本原理。
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引用次数: 0
Successful Treatment with Tezepelumab for an Adult with Refractory and Severe Fibrostenotic Eosinophilia Esophagitis: A Case Report. Tezepelumab成功治疗难治性重度纤维狭窄性嗜酸性粒细胞性食管炎1例。
IF 0.6 Q4 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-11-19 eCollection Date: 2025-01-01 DOI: 10.1159/000549673
Joseph L Maniaci, Allison J Burbank, Evan S Dellon

Introduction: Non-response to treatment in eosinophilic esophagitis (EoE) is common, and the approach to treatment-refractory patients with EoE is challenging. With increasing knowledge of EoE pathogenesis, mechanisms can be targeted by medications that are approved for other atopic diseases with a similar pathophysiology.

Case presentation: We present an adult with EoE who had longstanding symptoms prior to diagnosis, developed severe fibrostenosis with the narrow caliber phenotype requiring multiple esophageal dilations, and was previously nonresponsive to proton pump inhibitors (PPIs), topical corticosteroids (tCS), and food elimination diets (FED). Because of his concomitant severe asthma, he was treated with the eosinophil-depleting biologics mepolizumab and benralizumab. These reduced eosinophil counts on esophageal biopsy but did not improve symptoms, endoscopic features, or other histologic findings. He continued to require esophageal dilation for symptom control. His asthma control also remained suboptimal, prompting a trial of tezepelumab, an antibody against thymic stromal lymphopoietin (TSLP). In addition to controlling asthma, he improved across EoE symptom, endoscopic, and histologic metrics over a year of follow-up, including improvements in the EoE Endoscopic Reference Score, esophageal caliber, basal zone hyperplasia, dilated intercellular spaces, and lamina propria fibrosis as measured by the EoE Histologic Scoring System.

Conclusion: This patient, who did not respond to PPI, FED, tCS, mepolizumab, or benralizumab, ultimately had response to tezepelumab across multiple outcome domains of EoE. This demonstrates proof-of-concept that targeting TSLP may be a promising modality in EoE and supports further study of this mechanism for treatment of EoE.

嗜酸性粒细胞性食管炎(EoE)治疗无反应是常见的,治疗难治性EoE患者的方法具有挑战性。随着对EoE发病机制的了解不断增加,可以针对具有类似病理生理学的其他特应性疾病的药物进行靶向治疗。病例介绍:我们报告了一位成年EoE患者,他在诊断前有长期的症状,发展为严重的纤维狭窄,伴有窄口径表型,需要多次食管扩张,并且以前对质子泵抑制剂(PPIs),外用皮质类固醇(tCS)和食物消除饮食(FED)无反应。由于伴有严重的哮喘,他接受了嗜酸性粒细胞消耗生物制剂mepolizumab和benralizumab的治疗。食道活检中嗜酸性粒细胞计数减少,但症状、内窥镜特征或其他组织学表现没有改善。他继续需要食道扩张来控制症状。他的哮喘控制也处于次优状态,促使他进行了tezepelumab的试验,tezepelumab是一种抗胸腺基质淋巴生成素(TSLP)的抗体。除了控制哮喘外,在一年的随访中,患者的EoE症状、内窥镜和组织学指标均有所改善,包括EoE内窥镜参考评分、食管口径、基底带增生、细胞间隙扩张和EoE组织学评分系统测量的固有层纤维化的改善。结论:该患者对PPI、FED、tCS、mepolizumab或benralizumab无反应,最终对tezepelumab在EoE的多个结果域均有反应。这证明了靶向TSLP可能是一种很有前途的EoE治疗方式,并支持进一步研究这种治疗EoE的机制。
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引用次数: 0
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