Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
Department of Pediatrics, Kofu Municipal Hospital, Kofu, Japan.
Int J Rheum Dis. 2019 Aug;22(8):1489-1497. doi: 10.1111/1756-185X.13610. Epub 2019 May 27.
The syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a common inflammatory disease that presents with periodic fever. We aimed to establish more specific diagnostic criteria for PFAPA based on the clinical characteristics of PFAPA patients in our directory.
The clinical, laboratory, genetic, and family history details of 257 Japanese PFAPA patients treated at our and other affiliated hospitals between April 2000 and April 2018 were analyzed along with quantitative measurements of the number of CD64 molecules on neutrophils, and the levels of serum inflammatory cytokines. The sensitivity and specificity of the criteria were calculated for several diseases.
Because recurrent fevers were crucial findings, they were defined as the required criterion. Tonsillitis/pharyngitis with white moss were important accompanying signs. Other symptoms associated with febrile episodes were cervical lymphadenitis with tenderness, aphthous stomatitis, sore throat, vomiting, and headache but not cough. A total of 159 (62%) patients had a family history of recurrent fevers, indicating autosomal dominant inheritance. C-reactive protein levels were extremely elevated during febrile attacks but normal in attack-free periods. Serum immunoglobulin D levels were high in 72 of the 199 tested patients. Oral glucocorticoid and cimetidine were extremely effective in all and 51.6% of the patients, respectively. We defined the above as supportive criteria. These criteria were sensitive and specific enough to distinguish PFAPA from other recurrent fever diseases. Raised serum interferon-γ levels and remarkable CD64 expression on neutrophils during flare-ups were recognized, indicating they contributed to diagnosis.
Our new criteria are useful for diagnosing PFAPA.
周期性发热、口疮性口炎、咽炎和颈部淋巴结炎（PFAPA）综合征是一种常见的炎症性疾病，表现为周期性发热。我们旨在根据我们目录中 PFAPA 患者的临床特征，为 PFAPA 建立更具体的诊断标准。
分析了 2000 年 4 月至 2018 年 4 月在我们和其他附属医院治疗的 257 例日本 PFAPA 患者的临床、实验室、遗传和家族史详细信息，以及中性粒细胞 CD64 分子数量和血清炎症细胞因子水平的定量测量。计算了几种疾病的标准的敏感性和特异性。
由于反复发热是关键发现，因此将其定义为必需标准。扁桃体炎/咽炎伴白色苔藓是重要的伴随征象。其他与发热发作相关的症状是触痛的颈淋巴结炎、口疮性口炎、咽痛、呕吐和头痛，但无咳嗽。共有 159 例（62%）患者有反复发热的家族史，表明常染色体显性遗传。在发热发作期间 C 反应蛋白水平极高，但在无发作期间正常。在 199 例接受测试的患者中，有 72 例血清免疫球蛋白 D 水平升高。口服糖皮质激素和西咪替丁对所有患者和 51.6%的患者均非常有效。我们将上述内容定义为支持性标准。这些标准足以区分 PFAPA 与其他复发性发热疾病，具有足够的敏感性和特异性。在发作期间，发现升高的血清干扰素-γ水平和中性粒细胞上明显的 CD64 表达，表明它们有助于诊断。
我们的新标准有助于诊断 PFAPA。
