背景:未分化的自身炎性疾病以反复或持续发热为特征,通常合并其他炎症表现,以及单基因自身炎症性疾病的阴性或不确定的遗传研究。
目的:定义和表征在成人参考中心诊断为未分化自身炎性疾病的成人患者的疾病表型,并分析所用药物的疗效,以提供切实可行的诊断和治疗建议。
方法:回顾性研究(2015-2022年)在我们的参考中心就诊的所有患者中未分化的自身炎症性疾病患者。人口统计,临床,收集了实验室特征和详细的治疗信息.
结果:在334例疑似自身炎症患者中,134(40%)患者(61%的女性)最初被诊断为未分化的自身炎性疾病。发病和诊断时的平均年龄为28.7岁和37.7岁,分别。在90例(67.2%)患者中,症状始于成年期。44例(32.8%)患者符合成人PFAPA综合征的诊断/分类标准。在剩下的病人中,根据主要表现区分了另外四种表型:a)主要发热表型(n=18;13.4%);b)主要腹部/胸膜炎疼痛表型(n=9;6.7%);c)主要心包炎表型(n=18;13.4%),和d)复杂综合征表型(n=45;33.6%)。强的松(主要按需),秋水仙碱和anakinra是常用的药物。总的来说,使用泼尼松的完全缓解率为41.3%,秋水仙碱占40.2%,和anakinra在58.3%的患者中使用它们。根据表型,按需泼尼松在成人PFAPA综合征和患有腹部/胸膜炎疼痛和PFAPA综合征的患者中更有效。复杂综合征患者使用泼尼松(21.9%)达到完全缓解,秋水仙碱(25.7%)和阿纳金拉(44.4%),并且该组更经常需要额外的免疫抑制药物。
结论:对最大的单中心系列未分化自身炎性疾病成年患者的分析确定并表征了不同的疾病表型及其治疗方法。这项研究预计将有助于提高医生对这些疾病的早期识别的认识,并提供最知名的治疗方案。
BACKGROUND: Undifferentiated autoinflammatory diseases are characterized by recurrent or persistent fever, usually combined with other inflammatory manifestations, and negative or inconclusive genetic studies for monogenic autoinflammatory disorders.
OBJECTIVE: To define and characterize disease phenotypes in adult patients diagnosed in an adult reference center with undifferentiated autoinflammatory diseases, and to analyze the efficacy of the drugs used in order to provide practical diagnostic and therapeutic recommendations.
METHODS: Retrospective study (2015-2022) of patients with undifferentiated autoinflammatory diseases among all patients visited in our reference center. Demographic, clinical, laboratory features and detailed therapeutic information was collected.
RESULTS: Of the 334 patients with a suspected autoinflammatory disease, 134 (40%) patients (61% women) were initially diagnosed with undifferentiated autoinflammatory diseases. Mean age at disease onset and at diagnosis was 28.7 and 37.7 years, respectively. In 90 (67.2%) patients, symptoms started during adulthood. Forty-four (32.8%) patients met diagnostic/classification criteria for adult PFAPA syndrome. In the remaining patients, four additional phenotypes were differentiated according to the predominant manifestations: a) Predominantly fever phenotype (n = 18; 13.4%); b) Predominantly abdominal/pleuritic pain phenotype (n = 9; 6.7%); c) Predominantly pericarditis phenotype (n = 18; 13.4%), and d) Complex syndrome phenotype (n = 45; 33.6%). Prednisone (mainly on demand), colchicine and anakinra were the drugs commonly used. Overall, complete responses were achieved with prednisone in 41.3%, colchicine in 40.2%, and anakinra in 58.3% of patients in whom they were used. By phenotypes, prednisone on demand was more effective in adult PFAPA syndrome and colchicine in patients with the abdominal/pleuritic pain pattern and PFAPA syndrome. Patients with complex syndrome achieved complete responses with prednisone (21.9%), colchicine (25.7%) and anakinra (44.4%), and were the group more often requiring additional immunosuppressive drugs.
CONCLUSIONS: The analysis of the largest single-center series of adult patients with undifferentiated autoinflammatory diseases identified and characterized different disease phenotypes and their therapeutic approaches. This study is expected to contribute to increase the awareness of physicians for an early identification of these conditions, and to provide the best known therapeutic options.