Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey.
J Paediatr Child Health. 2024 Oct;60(10):511-515. doi: 10.1111/jpc.16623. Epub 2024 Jul 25.
Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease characterised by recurrent episodes of fever and polyserositis. Sacroiliac joint involvement is rare in FMF patients. The purpose of this study was to evaluate the demographic, clinical, laboratory and imaging findings of patients with FMF who developed sacroiliitis.
The files of paediatric patients aged 0-18 years who were followed up with a diagnosis of FMF were retrospectively reviewed. FMF patients with evidence of sacroiliitis on magnetic resonance imaging (MRI) were included in the study.
Among 1062 FMF patients, 22 (12 males; median age 8.5) (2.1%) of them were found to have sacroiliitis. FMF was diagnosed before sacroiliitis in nine (40.9%) patients and after in 13 (59.1%) patients. The most common symptom in patients with sacroiliitis was low back pain (n = 21, 95.5%). In MEFV gene analysis, M694V was found in 16 (72.7%) patients and was the most common mutation. MRI showed evidence of sacroiliitis in all patients. All patients were using colchicine. Patients with FMF-associated sacroiliitis, remission was achieved with non-steroidal anti-inflammatory drugs in 12 (54.5%), conventional disease-modifying antirheumatic drugs in six (27.3%) and tumour necrosis factor inhibitor treatment in four (31.8%). Four (31.8%) patients experienced sacroiliitis when colchicine incompatible and four (31.8%) patients experienced sacroiliitis while using biologic agents for colchicine-resistant FMF.
FMF-associated sacroiliitis should be considered especially in patients with M694V mutation if they have symptoms such as low back pain. Colchicine-resistant FMF patients should be evaluated for sacroiliitis symptoms at each visit.
家族性地中海热（FMF）是一种单基因自身炎症性疾病，其特征为反复发作的发热和多浆膜炎。骶髂关节受累在 FMF 患者中较为罕见。本研究旨在评估出现骶髂关节炎的 FMF 患者的人口统计学、临床、实验室和影像学表现。
回顾性分析了年龄在 0-18 岁之间、经诊断为 FMF 并接受随访的儿科患者的病历。将在磁共振成像（MRI）上有骶髂关节炎证据的 FMF 患者纳入研究。
在 1062 例 FMF 患者中，有 22 例（12 名男性；中位年龄 8.5 岁）（2.1%）患有骶髂关节炎。9 例（40.9%）患者在出现骶髂关节炎之前被诊断为 FMF，13 例（59.1%）患者在出现骶髂关节炎之后被诊断为 FMF。骶髂关节炎患者最常见的症状是腰痛（n=21，95.5%）。在 MEFV 基因分析中，16 例（72.7%）患者发现存在 M694V 突变，该突变为最常见的突变。所有患者的 MRI 均显示有骶髂关节炎证据。所有患者均使用秋水仙碱。22 例 FMF 相关骶髂关节炎患者中，12 例（54.5%）通过非甾体抗炎药、6 例（27.3%）通过传统的疾病修饰抗风湿药物、4 例（31.8%）通过肿瘤坏死因子抑制剂治疗达到缓解。4 例（31.8%）患者在使用秋水仙碱不耐受时出现骶髂关节炎，4 例（31.8%）患者在使用生物制剂治疗秋水仙碱抵抗的 FMF 时出现骶髂关节炎。
如果患者有腰痛等症状，特别是如果存在 M694V 突变，应考虑其患有 FMF 相关的骶髂关节炎。对于秋水仙碱抵抗的 FMF 患者，应在每次就诊时评估其骶髂关节炎症状。
