Almalaq Abdulrahman A, Almasoud Abdulaziz, Almeghaiseeb Ebtissam, Alamro Reem, Albishi Abdullah M, Alrashidi Seham, Alrobayan Abdulrahman
Gastroenterology and Hepatology, Prince Sultan Military Medical City, Riyadh, SAU.
Gastroenterology, Prince Sultan Military Medical City, Riyadh, SAU.
Cureus. 2025 Sep 13;17(9):e92230. doi: 10.7759/cureus.92230. eCollection 2025 Sep.
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a rare autoinflammatory disorder primarily affecting the musculoskeletal system and skin. Its coexistence with inflammatory bowel disease (IBD) is uncommon and presents a unique diagnostic and therapeutic challenge, especially when musculoskeletal symptoms precede intestinal involvement. This review synthesizes current literature on the clinical, radiological, and therapeutic intersections between SAPHO syndrome and IBD to provide a comprehensive, multidisciplinary framework that supports early recognition and effective management. A targeted narrative review of published case reports, clinical series, and relevant reviews was conducted using PubMed and Google Scholar, covering literature through 2024. In total, 14 publications describing SAPHO-IBD overlap cases were included in the synthesis, alongside additional literature informing pathophysiology and therapeutic context. Studies describing patients with concurrent SAPHO syndrome and Crohn's disease or ulcerative colitis were included, with extracted data thematically organized to explore disease presentation, diagnostic delays, treatment strategies, and outcomes. The SAPHO-IBD overlap remains underrecognized and is frequently misdiagnosed as spondyloarthritis or infectious osteomyelitis. Diagnostic delays of more than one year were commonly reported across cases, most often due to misclassification. Imaging findings such as the "bull's head" sign and sterile osteitis serve as diagnostic hallmarks but require a high index of clinical suspicion. Biologic therapies, particularly tumor necrosis factor-alpha (TNF-α) inhibitors and Janus kinase (JAK) inhibitors, have shown efficacy across both intestinal and osteoarticular domains; however, treatment challenges persist, including paradoxical dermatologic reactions and variable response across disease compartments. IBD-associated SAPHO syndrome represents a distinct but often overlooked clinical phenotype that challenges conventional diagnostic and therapeutic paradigms. Increased clinical awareness and interdisciplinary collaboration are essential to reduce diagnostic delays and facilitate individualized treatment approaches. While limited by the heterogeneity of case-based evidence and the inherent constraints of narrative review methodology, this synthesis highlights consistent clinical and therapeutic patterns and underscores the need for standardized diagnostic criteria and systematic evaluation of long-term outcomes. To our knowledge, this review is the first to propose a unified clinical and immunopathologic framework specifically addressing SAPHO-IBD overlap.
滑膜炎、痤疮、脓疱病、骨质增生和骨炎（SAPHO）综合征是一种罕见的自身炎症性疾病，主要影响肌肉骨骼系统和皮肤。它与炎症性肠病（IBD）并存并不常见，带来了独特的诊断和治疗挑战，尤其是当肌肉骨骼症状先于肠道受累时。本综述综合了关于SAPHO综合征与IBD之间临床、放射学和治疗交叉点的现有文献，以提供一个全面的多学科框架，支持早期识别和有效管理。使用PubMed和谷歌学术对已发表的病例报告、临床系列和相关综述进行了有针对性的叙述性综述，涵盖截至2024年的文献。总共14篇描述SAPHO-IBD重叠病例的出版物被纳入综述，以及其他有关病理生理学和治疗背景的文献。纳入了描述同时患有SAPHO综合征和克罗恩病或溃疡性结肠炎患者的研究，提取的数据按主题组织，以探讨疾病表现、诊断延迟、治疗策略和结果。SAPHO-IBD重叠仍未得到充分认识，经常被误诊为脊柱关节炎或感染性骨髓炎。各病例普遍报告诊断延迟超过一年，最常见的原因是分类错误。诸如“牛头”征和无菌性骨炎等影像学表现是诊断标志，但需要高度的临床怀疑。生物疗法，特别是肿瘤坏死因子-α（TNF-α）抑制剂和 Janus激酶（JAK）抑制剂，在肠道和骨关节领域均显示出疗效；然而，治疗挑战依然存在，包括矛盾的皮肤反应和不同疾病部位的可变反应。IBD相关的SAPHO综合征代表一种独特但常被忽视的临床表型，对传统诊断和治疗模式构成挑战。提高临床意识和跨学科合作对于减少诊断延迟和促进个体化治疗方法至关重要。虽然受基于病例证据的异质性和叙述性综述方法固有局限性的限制，但本综述突出了一致的临床和治疗模式，并强调了标准化诊断标准和长期结果系统评估的必要性。据我们所知，本综述是首次提出专门针对SAPHO-IBD重叠的统一临床和免疫病理框架。
