Sönmez Hafize Emine, Batu Ezgi Deniz, Demir Selcan, Bilginer Yelda, Özen Seza
Department of Paediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Clin Exp Rheumatol. 2017 Nov-Dec;35 Suppl 108(6):124-127. Epub 2017 Sep 26.
Familial Mediterranean fever (FMF) is the most common autoinflammatory disease manifesting with self-limited recurrent febrile attacks and polyserositis. Acute recurrent monoarthritis is the most common form of musculoskeletal involvement in FMF; however, up to 5% of FMF patients may develop chronic joint diseases including sacroiliitis. It is difficult to distinguish whether sacroiliitis is a musculoskeletal finding of FMF or whether this is the coexistence of two diseases, FMF and SpA. In this study, we aimed to evaluate FMF patients with sacroiliitis, and compare their features with juvenile spondyloarthropathy (SpA) patients, all of whom had sacroiliitis.
15 paediatric FMF patients with sacroiliitis and 30 patients with juvenile SpA followed between 2014-2016 at the Department of Paediatric Rheumatology at Hacettepe University, Ankara, were included in the study.
The median (min-max) age at diagnosis of sacroiliitis was 11 (7-15) for FMF+sacroiliitis, and 11.5 (7-16) years for juvenile SpA patients. All patients suffered from hip pain and morning stiffness. Only two FMF+sacroiliitis patients had enthesitis, while nearly half of juvenile SpA patients (46.7%) had enthesitis. Four FMF patients suffered from lower back pain, although none of them had spinal involvement. On the other hand, approximately one third of juvenile SpA patients had spinal involvement. The median white blood cell count, erythrocyte sedimentation rate, and C reactive protein values in FMF+sacroiliitis patients were higher (10.1x103/mm3 vs 7.8x103/mm3, p = 0.002; 41 vs 28 mm/h, p<0.001; 4.6 vs 1.3 mg/dl, p<0.001; respectively) than juvenile SpA patients. HLA B27 positivity was more common in juvenile SpA than FMF+sacroiliitis patients (86.6% vs 26.7%, respectively, p=0.001). The most common MEFV (MEditerranean FeVer) mutation was M694V in FMF patients. All juvenile SpA patients but one were negative for MEFV mutations. One juvenile SpA patient was heterozygous for E148Q.
We demonstrated that paediatric patients with FMF+sacroiliitis showed different characteristics (higher inflammatory markers, less frequent spinal and enthesitis involvement and HLA-B27 positivity) from patients with juvenile SpA. Whether FMF is a triggering factor for SpA or sacroiliitis is a feature of FMF, is still a matter of debate.
家族性地中海热（FMF）是最常见的自身炎症性疾病，表现为自限性反复发热发作和多浆膜炎。急性复发性单关节炎是FMF中肌肉骨骼受累最常见的形式；然而，高达5%的FMF患者可能会发展为包括骶髂关节炎在内的慢性关节疾病。很难区分骶髂关节炎是FMF的肌肉骨骼表现，还是FMF和脊柱关节炎（SpA）这两种疾病的共存。在本研究中，我们旨在评估患有骶髂关节炎的FMF患者，并将他们的特征与同样患有骶髂关节炎的青少年脊柱关节炎（SpA）患者进行比较。
纳入2014年至2016年期间在安卡拉哈杰泰佩大学儿科风湿病科随访的15例患有骶髂关节炎的儿科FMF患者和30例青少年SpA患者。
骶髂关节炎诊断时的中位（最小 - 最大）年龄，FMF + 骶髂关节炎患者为11岁（7 - 15岁），青少年SpA患者为11.5岁（7 - 16岁）。所有患者均有髋关节疼痛和晨僵。只有2例FMF + 骶髂关节炎患者有附着点炎，而近一半的青少年SpA患者（46.7%）有附着点炎。4例FMF患者有下背部疼痛，但他们均无脊柱受累。另一方面，约三分之一的青少年SpA患者有脊柱受累。FMF + 骶髂关节炎患者的中位白细胞计数、红细胞沉降率和C反应蛋白值均高于青少年SpA患者（分别为10.1×10³/mm³对7.8×10³/mm³，p = 0.002；41对28mm/h，p<0.001；4.6对1.3mg/dl，p<0.001）。HLA - B27阳性在青少年SpA中比FMF + 骶髂关节炎患者更常见（分别为86.6%对26.7%，p = 0.001）。FMF患者中最常见的MEFV（地中海热）突变是M694V。除1例青少年SpA患者外，其余所有患者MEFV突变均为阴性。1例青少年SpA患者为E148Q杂合子。
我们证明，患有FMF + 骶髂关节炎的儿科患者表现出与青少年SpA患者不同的特征（炎症标志物更高、脊柱和附着点炎受累频率更低以及HLA - B27阳性率更低）。FMF是SpA的触发因素还是骶髂关节炎是FMF的一个特征，仍然存在争议。
