Arslanoglu Aydin Elif, Baglan Esra, Bagrul İlknur, Emine Nur Sunar Yayla, Kocamaz Nesibe Gokce, Semanur Ozdel
Department of Pediatric Rheumatology, Ankara Etlik City Hospital, Ankara, Türkiye.
Turk Arch Pediatr. 2025 Jan 2;60(1):57-62. doi: 10.5152/TurkArchPediatr.2025.24210.
Objective: Familial Mediterranean fever (FMF) is a hereditary, autoinflammatory disease. The characteristics of siblings with FMF have not been described in large cohorts up to now. This study aimed to examine the features of siblings with FMF. Materials and Methods: This was a retrospective, cross-sectional study. Patients were divided into 2 groups according to the time of diagnosis (group I, the child diagnosed first in the family, and group II, the sibling diagnosed later). Results: A total of 143 siblings (65 families) with FMF were included in the study. Seventy-two percent of the patients had the same genetic mutation as their siblings. Despite having the same genetic mutation, 59% of the patients had different attack symptoms from their siblings. In 56% of the patients, the Pras disease severity score and in 45% of the patients, the response to colchicine treatment differed from their siblings with the same mutation. Fever and abdominal pain were statistically significantly more frequent in group I than in group II (P = .032). The age of disease onset in group I was statistically lower than in group II (P = .031). Genetic mutations, attack symptoms, and colchicine response were the same in twin pairs. The age of disease onset and age at diagnosis were also the same in half of the twin pairs. Conclusion: Parents of children diagnosed with FMF should be informed of all the symptoms of FMF disease and that siblings may present with different clinical findings.
家族性地中海热(FMF)是一种遗传性自身炎症性疾病。迄今为止,尚未在大型队列研究中描述FMF患者兄弟姐妹的特征。本研究旨在探讨FMF患者兄弟姐妹的特征。材料与方法:这是一项回顾性横断面研究。根据诊断时间将患者分为两组(第一组为家族中首个被诊断的儿童,第二组为随后被诊断的兄弟姐妹)。结果:本研究共纳入143名患有FMF的兄弟姐妹(65个家庭)。72%的患者与其兄弟姐妹具有相同的基因突变。尽管具有相同的基因突变,但59%的患者与兄弟姐妹的发作症状不同。56%的患者疾病严重程度评分以及45%的患者对秋水仙碱治疗的反应与其具有相同突变的兄弟姐妹不同。第一组发热和腹痛的发生率在统计学上显著高于第二组(P = 0.032)。第一组疾病发病年龄在统计学上低于第二组(P = 0.031)。双胞胎对的基因突变、发作症状和秋水仙碱反应相同。半数双胞胎对的疾病发病年龄和诊断年龄也相同。结论:应告知被诊断患有FMF儿童的父母FMF疾病的所有症状,且其兄弟姐妹可能表现出不同的临床症状。