背景:肿瘤坏死因子受体相关的周期性综合征(TRAPS)是一种常染色体显性遗传的自身炎症性疾病,源于影响肿瘤坏死因子受体(TNFR)-1的TNFRSF1A基因突变。这些突变导致炎症反应失调,主要由增加的白细胞介素(IL)-1β释放介导。
方法:我们介绍一例29岁女性,有反复发热史,腹痛,和联合表现,基因检测显示TNFRSF1A中存在杂合子R92Q突变,最终诊断为TRAPS.进一步的基因检查揭示了额外的临床显著突变,使临床表现复杂化。我们的患者表现出延迟的结肠运输时间和右侧结肠淀粉样变性,罕见的并发症.压倒性的肠梗阻需要手术干预,组织学检查显示粘膜萎缩和密集的淋巴细胞浸润。
结论:TRAPS的胃肠道受累是常见的,但可能存在诊断挑战。结肠切除后,组织学检查显示淀粉样蛋白沉积,强调对这些患者进行全面评估的重要性。孤立性绞痛淀粉样变具有重要的诊断和预后意义,保证谨慎的监控和量身定制的管理策略。TRAPS的治疗通常涉及抗炎药,如IL-1抑制剂,我们的患者在anakinra和canakinumab上经历了临床改善。
结论:本病例报告强调TRAPS的不同表现和认识胃肠道并发症的重要性,特别是孤立性绞痛淀粉样变。综合评价,包括组织学检查,对于识别非典型疾病表现和指导管理决策至关重要。需要继续研究以阐明TRAPS及其相关并发症的潜在机制并优化治疗策略。
BACKGROUND: Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (
TRAPS) is an autosomal dominant autoinflammatory disorder stemming from mutations in the TNFRSF1A gene affecting the tumor necrosis factor receptor (TNFR)-1. These mutations lead to dysregulated inflammatory responses, primarily mediated by augmented interleukin (IL)-1β release.
METHODS: We present the case of a 29-year-old woman with a history of recurrent febrile episodes, abdominal pain, and joint manifestations, eventually diagnosed with
TRAPS following genetic testing revealing a heterozygous R92Q mutation in TNFRSF1A. Further genetic examinations unveiled additional clinically significant mutations, complicating the clinical picture. Our patient exhibited delayed colonic transit time and right colonic amyloidosis, a rare complication. Surgical intervention was required for overwhelming intestinal obstruction, revealing mucosal atrophy and dense lymphocytic infiltrates on histological examination.
CONCLUSIONS: Gastrointestinal involvement in
TRAPS is common but can present diagnostic challenges. Following colon resection, histological examination revealed amyloid deposition, underscoring the importance of a comprehensive evaluation of these patients. Isolated colic amyloidosis has significant diagnostic and prognostic implications, warranting cautious monitoring and tailored management strategies. Treatment of
TRAPS typically involves anti-inflammatory agents such as IL-1 inhibitors, with our patient experiencing clinical improvement on anakinra and canakinumab.
CONCLUSIONS: This case report emphasizes the diverse manifestations of
TRAPS and the importance of recognizing gastrointestinal complications, particularly isolated colic amyloidosis. Comprehensive evaluation, including histological examination, is crucial for identifying atypical disease presentations and guiding management decisions. Continued research is needed to elucidate the underlying mechanisms and optimize treatment strategies for TRAPS and its associated complications.