Ekici Mehveş Işıklar, Çelikel Elif, Tekin Zahide Ekici, Güngörer Vildan, Karagöl Cüneyt, Kaplan Melike Mehveş, Öner Nimet, Polat Merve Cansu, Öztürk Didem, Özçelik Emine, Es Yasemin Uğur, Yoğun Sultan Nilay, Acar Banu Çelikel
Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara Bilkent City Hospital, Bilkent, Ankara, 06800, Turkey.
Eur J Pediatr. 2025 Apr 7;184(5):282. doi: 10.1007/s00431-025-06091-y.
Familial Mediterranean fever (FMF) is the most common autoinflammatory disease of childhood and is frequently associated with systemic inflammatory diseases such as vasculitis. The aim of this study is to evaluate the impact of FMF on clinical and laboratory findings and disease activity of immunoglobulin A vasculitis (IgAV) at presentation. Patients with IgAV who were followed up for more than 3 months were included in the study. Patients were divided into two subgroups regarding presence of FMF. Demographic characteristics, clinical findings in the first 3 months, laboratory findings at the time of diagnosis, vasculitis activity scores (PVAS), and treatments administered were recorded. A total of 662 patients with IgAV were included in the study. FMF was diagnosed in 49 (7.4%) patients with IgAV. Patients with FMF had more gastrointestinal tract and renal involvement, higher PVAS score, higher C-reactive protein levels, and higher need for steroids, cyclophosphamide, and intravenous immunoglobulin (p = 0.01, p = 0.03, p < 0.001, p < 0.001, p = 0.04, p < 0.001, p = 0.01, respectively). When patients were analyzed according to MEFV mutations, the effect of FMF on vasculitis was more prominent especially in patients carrying homozygous and compound heterozygous mutations in exon 10.
FMF may lead to more severe clinical and laboratory findings and disease activity at the time of IgAV diagnosis. The clinician should be aware that the course of IgAV may be affected by the presence of FMF.
E2-24-6125, 21.01.2024, retrospectively registered.
• In patients with familial Mediterranean fever (FMF), some vasculitides are more common and may affect the course of vasculitis.
• At the time of immunoglobulin A vasculitis diagnosis, patients with FMF may have more system involvement, higher vasculitis activation scores, and acute phase reactants and require more intensive treatment than those without FMF.
家族性地中海热（FMF）是儿童期最常见的自身炎症性疾病，常与血管炎等全身性炎症性疾病相关。本研究的目的是评估FMF对免疫球蛋白A血管炎（IgAV）初诊时的临床和实验室检查结果及疾病活动度的影响。纳入随访时间超过3个月的IgAV患者。根据是否存在FMF将患者分为两个亚组。记录人口统计学特征、前3个月的临床表现、诊断时的实验室检查结果、血管炎活动评分（PVAS）及所给予的治疗。本研究共纳入662例IgAV患者。49例（7.4%）IgAV患者诊断为FMF。FMF患者胃肠道和肾脏受累更多，PVAS评分更高，C反应蛋白水平更高，且更需要使用类固醇、环磷酰胺和静脉注射免疫球蛋白（分别为p = 0.01、p = 0.03、p < 0.001、p < 0.001、p = 0.04、p < 0.001、p = 0.01）。根据MEFV突变对患者进行分析时，FMF对血管炎的影响在第10外显子携带纯合和复合杂合突变的患者中尤为突出。
FMF可能导致IgAV诊断时更严重的临床和实验室检查结果及疾病活动度。临床医生应意识到FMF的存在可能影响IgAV的病程。
E2 - 24 - 6125，2024年1月21日，回顾性注册。
• 在家族性地中海热（FMF）患者中，某些血管炎更常见，且可能影响血管炎病程。
• 在免疫球蛋白A血管炎诊断时，与无FMF的患者相比，FMF患者可能有更多系统受累、更高的血管炎激活评分和急性期反应物，且需要更强化的治疗。
