From the Departments of Pediatric Rheumatology.
Pediatric Allergy and Immunology, Cukurova University Faculty of Medicine, Adana, Turkey.
J Clin Rheumatol. 2021 Jan 1;27(1):18-24. doi: 10.1097/RHU.0000000000001146.
BACKGROUND/OBJECTIVE: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease and is characterized by recurrent fever and serositis episodes. We aimed to share our 20-year FMF experience, clarify a phenotype-genotype correlation, and compare the characteristics and outcomes of pediatric FMF patients over the last 2 decades in this study.
This medical record review study included 714 pediatric FMF patients (340 females, 374 males), diagnosed by Tel Hashomer diagnostic criteria between January 2009 and January 2019 and followed up in our department. Demographic and disease characteristics, obtained from medical records of the patients, were compared between patients with M694V homozygosity and other genotypes and showed whether they were diagnosed before (n = 137) or after January 2010 (n = 577). χ2, Student t, and Mann-Whitney U tests were used to compare categorical and continuous variables between these groups.
The most common symptoms were abdominal pain (92%), fever (89.5%), and arthralgia (64.5%). Mean ages at symptom onset and diagnosis were 5.16 ± 3.73 and 7.71 ± 3.87 years, respectively. M694V homozygosity was recorded in 111 patients (15.5%). Fever, arthralgia, arthritis, myalgia, erysipela-like erythema, colchicine resistance, and subclinical inflammation were more frequent, and mean disease severity score was higher in patients with M694V homozygosity. Fever, chest pain, and proteinuria were statistically more frequent in patients diagnosed before January 2010. Although M694V homozygosity rate was similar, patients diagnosed in the last decade had lower mean disease severity score.
With this study, we speculate that although genotype and delay in diagnosis were similar, patients diagnosed in the last decade have a milder disease severity.
背景/目的：家族性地中海热（FMF）是最常见的自身炎症性疾病，其特征为反复发作的发热和浆膜炎。本研究旨在分享我们 20 年的 FMF 经验，阐明表型-基因型相关性，并比较过去 20 年儿科 FMF 患者的特征和结局。
这项病历回顾性研究纳入了 714 名儿科 FMF 患者（340 名女性，374 名男性），根据 Tel Hashomer 诊断标准，于 2009 年 1 月至 2019 年 1 月间确诊，并在我科接受随访。从患者病历中获取的人口统计学和疾病特征，在 M694V 纯合子和其他基因型的患者之间进行了比较，并显示他们是在 2010 年 1 月之前（n=137）还是之后（n=577）确诊的。卡方检验、学生 t 检验和曼-惠特尼 U 检验用于比较两组间的分类和连续变量。
最常见的症状是腹痛（92%）、发热（89.5%）和关节痛（64.5%）。症状发作和诊断的平均年龄分别为 5.16±3.73 岁和 7.71±3.87 岁。111 名患者（15.5%）存在 M694V 纯合子。M694V 纯合子患者中发热、关节痛、关节炎、肌痛、红斑样红斑、秋水仙碱抵抗和亚临床炎症更为常见，疾病严重程度评分也更高。2010 年 1 月前确诊的患者中发热、胸痛和蛋白尿更为常见。虽然 M694V 纯合子的发生率相似，但过去 10 年诊断的患者疾病严重程度评分较低。
通过本研究，我们推测尽管基因型和诊断延迟相似，但过去 10 年诊断的患者疾病严重程度较轻。
