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家族性地中海热患者关节炎的特征。

Characteristics of arthritis in patients with familial Mediterranean fever.

机构信息

Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.

出版信息

Intern Med J. 2024 Nov;54(11):1802-1808. doi: 10.1111/imj.16495. Epub 2024 Aug 21.

Abstract

BACKGROUND

Many of the familial Mediterranean fever (FMF) patients present with arthritis during attacks, which may vary in its characteristics.

AIMS

In this study, we aimed to describe and characterise arthritis in FMF patients.

METHODS

We used our hospital's record system to retrospectively identify FMF patients with arthritis who presented to our clinic between 2005 and 2020. The prevalence, laboratory results of attack, remission periods, genetic mutations, demographic data, characteristics of attacks, characteristics of arthritis, comorbidities, treatments and treatment responses were recorded.

RESULTS

Nine hundred fifty-four patients from a cohort of 2350 FMF patients had arthritis (40%). The male/female ratio was 0.49 in patients with arthritis. The frequency of at least one exon 10 mutation was high. The age of onset of symptoms was earlier for patients with arthritis. Monoarticular pattern was more frequent compared to oligo- and polyarticular patterns. Colchicine resistance was higher; the required colchicine dose for disease control and the frequency of use of biological agents were higher compared to general FMF population.

CONCLUSION

Since M694V mutation is common and the colchicine dose required for disease control is high, we can conclude that the disease activity is high in FMF patients with arthritis. The frequency of sacroiliitis and spondyloarthropathy is significantly increased, especially in individuals with M694V mutation, suggesting that there may be a common pathway in their pathogenesis. FMF should be included in the differential diagnosis in patients presenting with arthritis in FMF endemic regions.

摘要

背景

许多家族性地中海热 (FMF) 患者在发作期间会出现关节炎,其特征可能有所不同。

目的

本研究旨在描述和表征 FMF 患者的关节炎。

方法

我们使用医院的记录系统回顾性地确定了 2005 年至 2020 年间在我院就诊的患有关节炎的 FMF 患者。记录了患病率、发作时的实验室结果、缓解期、基因突变、人口统计学数据、发作特征、关节炎特征、合并症、治疗方法和治疗反应。

结果

在 2350 名 FMF 患者的队列中,有 954 名患者患有关节炎(40%)。关节炎患者中男性/女性的比例为 0.49。至少有一个外显子 10 突变的频率较高。关节炎患者的症状发作年龄更早。与寡关节炎和多关节炎模式相比,单关节炎模式更为常见。对秋水仙碱的耐药性更高;与一般 FMF 人群相比,控制疾病所需的秋水仙碱剂量更高,生物制剂的使用频率也更高。

结论

由于 M694V 突变很常见,控制疾病所需的秋水仙碱剂量较高,我们可以得出结论,患有关节炎的 FMF 患者的疾病活动度较高。骶髂关节炎和脊椎关节病的频率显著增加,尤其是在 M694V 突变的个体中,提示它们的发病机制可能存在共同途径。在 FMF 流行地区,出现关节炎的患者应考虑 FMF 作为鉴别诊断。

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