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Abstract：
Background: The accruing evidence about the efficacy of anti-IL-1 agents in Familial Mediterranean Fever (FMF) patients led to their widespread off-label use. Therefore, identifying precise indications and clinical characteristics of IL-1i-warranting patients are important. This study investigated the clinical characteristics and treatment indications of patients with FMF requiring interleukin 1 inhibition therapy (IL-1i). Methods: Hospital records of FMF patients attending a tertiary care center at the Department of Rheumatology, University of Health Sciences, Basaksehir Cam and Sakura City Hospital were retrospectively analyzed. Data on symptoms and disease manifestations, age of symptom onset, time to diagnosis, MEFV variants, type of treatment, and their indications were collected. Results: Between June 2020 and March 2023, 312 FMF patients were identified. The mean age at the onset of symptoms was 14.0, and the mean time to diagnosis was 11.9 years. In total, 87.1% of patients were receiving colchicine monotherapy, while the remaining 11.8% warranted IL-1i. Clinical symptoms and flare manifestations did not show a significant difference between the two groups. However, patients receiving IL-1i started having symptoms at younger age (11.5 vs. 14.5, p = 0.042) and time to diagnosis was longer (18.2 vs. 11.0, p < 0.01). M694V homozygosity was more common in patients receiving IL-1i. Indications for patients receiving IL-1i were colchicine resistance (8.0%), secondary amyloidosis (5.1%), and colchicine intolerance (2.2%). Conclusions: This study shows that a subset of FMF patients, particularly those with a more severe phenotype with an earlier disease onset and M694V homozygosity, require IL-1i treatment despite the overall good efficacy and tolerability of colchicine, primarily due to colchicine resistance, intolerance, or complications such as amyloidosis.
摘要：
背景：关于抗IL-1药物在家族性地中海热（FMF）患者中的疗效的证据导致其广泛的标签外使用。因此,确定IL-1i保证患者的准确适应症和临床特征非常重要.这项研究调查了需要白介素1抑制疗法（IL-1i）的FMF患者的临床特征和治疗指征。方法：在风湿病科三级护理中心就诊的FMF患者的医院记录，健康科学大学,对BasaksehirCam和Sakura市医院进行回顾性分析。症状和疾病表现的数据，症状发作的年龄，诊断时间到了,MEFV变体,治疗类型,并收集了他们的适应症。结果：在2020年6月至2023年3月之间，确定了312名FMF患者。症状发作的平均年龄为14.0岁，平均诊断时间为11.9岁。总的来说,87.1%的患者接受秋水仙碱单药治疗,而其余的11.8%保证IL-1i。两组之间的临床症状和耀斑表现没有显着差异。然而,接受IL-1i的患者在较年轻的年龄开始出现症状(11.5vs.14.5，p=0.042），诊断时间更长（18.2vs.11.0,p<0.01)。M694V纯合性在接受IL-1i的患者中更常见。接受IL-1i的患者的适应症为秋水仙碱耐药（8.0%），继发性淀粉样变性（5.1％），和秋水仙碱不耐受（2.2%）。结论：这项研究表明，FMF患者的一部分，特别是那些具有更严重的表型，具有更早的疾病发作和M694V纯合子，尽管秋水仙碱的总体疗效和耐受性良好，但仍需要IL-1i治疗，主要是由于秋水仙碱抗性，不容忍,或淀粉样变性等并发症。
