Department of Internal Medicine, Complejo Hospitalario Universitario de Santiago, University of Santiago de Compostela, Santiago de Compostela, Spain.
Vasculitis Research Unit and Clinical Unit of Autoinflammatory Diseases, Department of Autoimmune Diseases, Hospital Clinic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain.
Mod Rheumatol Case Rep. 2023 Jan 3;7(1):276-279. doi: 10.1093/mrcr/rxac043.
Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, a polygenic or multifactorial condition, is the most frequent autoinflammatory disease in children. There is increasing evidence that some patients may have a disease onset during adulthood. With regard to PFAPA syndrome treatment, single medium-to-high doses of glucocorticoids during flares constitute the therapy of choice in children and adults, colchicine may be useful in some patients, and tonsillectomy has been reported of utility mainly in paediatric patients. Interleukin-1 (IL-1) blockers have been sporadically used with good response in glucocorticoid-resistant cases. We report a patient with an adult onset of glucocorticoid-resistant PFAPA syndrome and inconsistent response to colchicine and anakinra, who later achieved a complete and sustained response to canakinumab. Although canakinumab seems to be a good therapeutic option in paediatric and adult patients with refractory PFAPA syndrome, the best anti-IL-1 agent and the sequence of administration have to be still determined in well-designed clinical trials.
周期性发热、口疮性口炎、咽炎和颈淋巴结炎（PFAPA）综合征是一种多基因或多因素条件，是儿童最常见的自身炎症性疾病。越来越多的证据表明，一些患者可能在成年后发病。关于 PFAPA 综合征的治疗，在发作期间使用单次中高剂量的糖皮质激素是儿童和成人的首选治疗方法，秋水仙碱在一些患者中可能有用，扁桃体切除术主要在儿科患者中报告有效。白细胞介素-1（IL-1）阻滞剂已被零星用于治疗糖皮质激素耐药病例，且反应良好。我们报告了一例糖皮质激素耐药性 PFAPA 综合征成年起病患者，对秋水仙碱和阿那白滞素的反应不一致，后来对卡那单抗完全和持续反应。尽管卡那单抗似乎是一种治疗儿童和成年难治性 PFAPA 综合征的良好选择，但仍需要在精心设计的临床试验中确定最佳的抗 IL-1 药物和给药顺序。
