Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
Clin Exp Rheumatol. 2019 Nov-Dec;37 Suppl 121(6):116-118. Epub 2019 Oct 10.
Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is a multifactorial autoinflammatory disease (AID), which mainly affects children. There have been hardly any cases reported concerning the Chinese population. We aimed to describe the first cohort of adult PFAPA patients in China.
We evaluated all the adult patients suffering from PFAPA syndrome diagnosed in our centre from April 2015 through March 2018. The patients were diagnosed clinically, and whole exome sequencing was performed in each patient to rule out mono-genic AIDs.
During the study period, a total of 9 adult patients (8 men, 1 woman) with PFAPA syndrome were diagnosed. They all had disease onset in adulthood, and the mean age at onset was 25.2±9.5 years. The mean duration of attacks was 4.1±1.0 days, and the mean interval between attacks was 6.2±2.7 weeks. Apart from periodic fever, which was present in all patients, pharyngitis, cervical adenitis and aphthous stomatitis were present in 89%, 67% and 44% patients, respectively. Other common symptoms included fatigue (100%), headache (56%), and myalgia (55%). Inflammatory markers, except ferritin, increased during attacks and returned to normal afterwards. Glucocorticoids given at onset of attacks were effective, while colchicine and tonsillectomy were of no effect.
Our study is the first to suggest the presence of PFAPA syndrome in the Chinese adult population. Clinicians should take into account PFAPA syndrome when diagnosing patients suffering from recurrent fevers of unknown origin, especially those with pharyngitis, cervical adenopathy and aphthous stomatitis.
周期性发热、口疮性口炎、咽炎和颈淋巴结炎（PFAPA）综合征是一种多因素自身炎症性疾病（AID），主要影响儿童。在中国人群中几乎没有报道过这种疾病。我们旨在描述中国首例成人 PFAPA 患者队列。
我们评估了 2015 年 4 月至 2018 年 3 月期间在我们中心诊断为 PFAPA 综合征的所有成年患者。患者通过临床诊断，对每位患者进行全外显子组测序以排除单基因 AID。
在研究期间，共诊断出 9 例成人 PFAPA 综合征患者（8 名男性，1 名女性）。他们均在成年后发病，发病年龄平均为 25.2±9.5 岁。发作的平均持续时间为 4.1±1.0 天，发作间隔的平均时间为 6.2±2.7 周。除了所有患者均存在的周期性发热外，咽炎、颈淋巴结炎和口疮性口炎分别在 89%、67%和 44%的患者中出现。其他常见症状包括疲劳（100%）、头痛（56%）和肌痛（55%）。除铁蛋白外，炎症标志物在发作期间增加，之后恢复正常。发作时给予的糖皮质激素有效，而秋水仙碱和扁桃体切除术无效。
我们的研究首次提示 PFAPA 综合征存在于中国成年人群中。当诊断原因不明的复发性发热患者时，尤其是伴有咽炎、颈淋巴结病和口疮性口炎的患者，临床医生应考虑 PFAPA 综合征。
