Division of Rheumatology, Department of Pediatrics, Ankara Training and Research Hospital, University of Health Sciences, Ankara, 06100, Turkey.
Division of Respiratory Medicine Cardiology, Intensive Care and Sleep Medicine, Department of Internal Medicine, Ameos Klinikum am Bürgerpark, Bremerhaven, Germany.
Rheumatol Int. 2019 Jun;39(6):1099-1105. doi: 10.1007/s00296-019-04310-y. Epub 2019 Apr 24.
Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is a recurrent fever syndrome for which tonsillectomy is a therapeutic option curing the disease in most patients. Recurrence after remission with tonsillectomy is extremely rare. Increasing number of reports on diverse disease manifestations in PFAPA could give us clues about the disease etiopathogenesis. We aimed to describe a patient with recurrence of PFAPA syndrome after tonsillectomy and to review the previous studies including similar cases. We report a 17-year-old boy with PFAPA syndrome who experienced remission for 3 years after tonsillectomy and was later found to harbor an MEFV mutation when the disease relapsed. He responded well to colchicine treatment at relapse. The literature review revealed 14 articles describing 24 similar PFAPA patients. The therapeutic options include single-dose corticosteroids and nonsteroidal anti-inflammatory drugs during attacks, cimetidine, and resurgery. The presented case was the only one heterozygous for an MEFV mutation and treated with colchicine at disease relapse. Albeit rare, the reoccurrence of PFAPA after tonsillectomy could occur. The presence of such patients opposes with the hypothesis that the trigger or immune dysregulation in PFAPA pathogenesis resides in tonsils.
周期性发热、口疮性口炎、咽炎和颈淋巴结炎（PFAPA）综合征是一种复发性发热综合征，扁桃体切除术是大多数患者的治疗选择，可以治愈该病。扁桃体切除术后缓解后复发极为罕见。越来越多的关于 PFAPA 多种临床表现的报告为我们提供了有关该病发病机制的线索。我们旨在描述 1 例扁桃体切除术后 PFAPA 综合征复发的患者，并复习包括类似病例的以往研究。我们报告了 1 例 17 岁男孩，他在扁桃体切除术后 3 年缓解，后来在疾病复发时发现存在 MEFV 突变。他在复发时对秋水仙碱治疗反应良好。文献复习显示，有 14 篇文章描述了 24 例类似的 PFAPA 患者。治疗选择包括在发作期间使用单剂量皮质类固醇和非甾体抗炎药、西咪替丁和再次手术。所报告的病例是唯一一例杂合 MEFV 突变，并在疾病复发时用秋水仙碱治疗。尽管罕见，但扁桃体切除术后 PFAPA 仍可能复发。此类患者的存在与 PFAPA 发病机制中的触发因素或免疫失调位于扁桃体的假设相矛盾。
