Department of Pediatrics B, Ruth Rappaport Children's Hospital, Rambam Medical Center, Haifa, Israel; Pediatric Rheumatology Service, Ruth Rappaport Children's Hospital, Rambam Medical Center, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel; Pediatric Rheumatology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
J Pediatr. 2019 Jan;204:270-274. doi: 10.1016/j.jpeds.2018.08.080. Epub 2018 Oct 22.
To describe a cohort of pediatric patients diagnosed with periodic fever aphthous stomatitis, pharyngitis and adenitis (PFAPA) and familial Mediterranean fever (FMF) and compare them with children diagnosed solely with PFAPA (sPFAPA).
Clinical, laboratory, and genetic data of all pediatric patients diagnosed with sPFAPA or PFAPA/FMF were retrospectively collected from 2 primary Israeli medical referral centers and compared.
Of 270 patients with PFAPA, more than one-half were of Mediterranean ancestry. Among patients with PFAPA, 51 (18.9%) also were diagnosed with FMF (PFAPA/FMF). Genetic data on the 9 most common MEFV variants were available for 45 children (88%) in the PFAPA/FMF group. Two variants were found in 15 children (33.3 %), 1 variant was found 27 patients (60%), and 3 patients (6.6%) had no variants. Abdominal pain, myalgia, and arthralgia each were more commonly reported in the PFAPA/FMF group compared with the sPFAPA group (90% vs 49% [P < .0001]; 46% vs 23% [P = .02]; and 30% vs 17% [P = .049], respectively). Colchicine was more commonly prescribed for the PFAPA/FMF group compared with the sPFAPA group (82% vs 29%; P < .0001), but alleviation of PFAPA symptoms with colchicine was similar between groups (75% vs 63%; P = .23).
We show a strong association between 2 common autoinflammatory syndromes, PFAPA and FMF, in patients from Mediterranean ancestry. Clinicians should be aware that presentation of 1 disease may clinically evolve into another. The association between PFAPA and FMF poses the question similar pathogenesis and genetic influence of the MEFV gene on PFAPA.
描述一组被诊断为周期性发热性口疮性口炎、咽炎和淋巴结炎（PFAPA）和家族性地中海热（FMF）的儿科患者，并将其与仅被诊断为 PFAPA（sPFAPA）的儿童进行比较。
从 2 家以色列主要医疗转诊中心回顾性收集所有被诊断为 sPFAPA 或 PFAPA/FMF 的儿科患者的临床、实验室和遗传数据，并进行比较。
在 270 例 PFAPA 患者中，超过一半有地中海血统。在 PFAPA 患者中，51 例（18.9%）还被诊断为 FMF（PFAPA/FMF）。在 PFAPA/FMF 组的 45 名儿童中，有 9 种最常见的 MEFV 变异体的遗传数据可用。在 15 名儿童（33.3%）中发现了 2 种变异体，在 27 名儿童（60%）中发现了 1 种变异体，在 3 名儿童（6.6%）中未发现变异体。与 sPFAPA 组相比，PFAPA/FMF 组更常报告腹痛、肌痛和关节痛（90% vs 49%[P<.0001]；46% vs 23%[P=.02]；30% vs 17%[P=.049]）。与 sPFAPA 组相比，PFAPA/FMF 组更常开处方秋水仙碱（82% vs 29%；P<.0001），但两组之间秋水仙碱缓解 PFAPA 症状的效果相似（75% vs 63%；P=.23）。
我们在来自地中海地区的患者中发现了 2 种常见的自身炎症综合征，即 PFAPA 和 FMF 之间存在很强的关联。临床医生应该意识到，一种疾病的表现可能会在临床上演变成另一种疾病。PFAPA 和 FMF 之间的关联提出了这样一个问题，即 PFAPA 可能具有相似的发病机制和 MEFV 基因对其的遗传影响。
