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Abstract：
Familial mediterranean fever (FMF) is a genetic autoinflammatory disease typically diagnosed in childhood. In this study, we aimed to investigate the demographic, clinical, and genetic characteristics of patients aged 18 years and older who were diagnosed with FMF. Patients diagnosed with FMF between 2014 and 2022 at Karadeniz Technical University Faculty of Medicine Hospital were included in the study. Patients were divided into 2 groups based on the age of disease onset. Group I included patients with adult-onset (ages 18-40), while group II comprised patients with late onset (ages 40 and above). Subsequently, the 2 groups were compared. A total of 150 patients with a mean age of 32 (18-79) were included in the study. There were 116 patients in group I and 34 (22.7%) in group II. The most common presenting complaint was abdominal pain (91.3%), and the most prevalent complication was amyloidosis (4.7%). No significant differences were observed between age groups regarding clinical findings and symptoms. The most frequent homozygous mutations were M694V (9.3%) and R202Q (1.8%), while the heterozygous mutations were M694V (37.3%) and R202Q (35.5%), respectively. The rate of M694V gene positivity in the adult-onset group was significantly higher compared to the lateonset group (52.9% and 25%, respectively, P = .020). There does not appear to be a significant difference in clinical signs and symptoms between adult-onset and late-onset FMF patients. The higher rate of M694V gene positivity in the adult-onset group suggests that the M694V mutation may be responsible for the early expression of the disease.
摘要：
家族性地中海热（FMF）是一种通常在儿童时期诊断的遗传性自身炎性疾病。在这项研究中,我们的目标是调查人口统计，临床,以及18岁及以上被诊断为FMF的患者的遗传特征。2014年至2022年在Karadeniz技术大学医学院医院诊断为FMF的患者被纳入研究。根据发病年龄将患者分为2组。第一组包括成年发病的患者（年龄18-40岁），而II组包括晚发性患者（40岁及以上）。随后，两组进行比较。共有150名平均年龄为32（18-79）的患者被纳入研究。Ⅰ组116例，Ⅱ组34例（22.7%）。最常见的主诉是腹痛（91.3%），最常见的并发症是淀粉样变性(4.7%)。在临床发现和症状方面，年龄组之间没有观察到显着差异。最常见的纯合突变是M694V（9.3％）和R202Q（1.8％），杂合突变为M694V(37.3%)和R202Q(35.5%),分别。成年发病组M694V基因阳性率明显高于晚发病组(52.9%和25%,分别,P=.020）。成人发作和迟发性FMF患者之间的临床体征和症状似乎没有显着差异。成人发病组中M694V基因阳性率较高，表明M694V突变可能是该疾病早期表达的原因。
