Veres Tamar, Amarilyo Gil, Abu Ahmad Sabreen, Abu Rumi Maryam, Brik Riva, Hezkelo Nofar, Ohana Orly, Levinsky Yoel, Chodick Gabriel, Butbul Aviel Yonatan
The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Pediatric Rheumatology Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
Front Pediatr. 2022 Mar 3;9:800656. doi: 10.3389/fped.2021.800656. eCollection 2021.
Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) is the most common periodic fever syndrome in the pediatric population, yet its pathogenesis is unknown. PFAPA was believed to be sporadic but family clustering has been widely observed.
To identify demographic and clinical differences between patients with PFAPA and a positive family history (FH+) as compared to those with no family history (FH-).
In a database comprising demographic and clinical data of 273 pediatric PFAPA patients treated at two tertiary centers in Israel, 31 (14.3%) had FH+. Data from patients with FH+ were compared to data from those with FH-. Furthermore, family members (FMs) of those with FH+ were contacted via telephone for more demographic and clinical details.
The FH+ group as compared to the FH- group had more myalgia (56 vs. 19%, respectively, = 0.001), headaches (32 vs. 2%, respectively, = 0.016), and a higher carrier frequency of M694V mutation (54% vs. 25%, respectively, = 0.05). Colchicine was seen to be a more beneficial treatment for the FH+ group as compared to the FH- group; however, with no statistical significance ( = 0.096). FMs displayed almost identical characteristics to patients in the FH+ group except for greater arthralgia during flares (64 vs. 23%, respectively, = 0.008), and compared to the FH- group they had more oral aphthae (68 vs. 43%, respectively, = 0.002), myalgia/arthralgia (64 vs. 19%/16%, respectively, < 0.0001), and higher rates of FH of Familial Mediterranean fever (FMF) (45 vs.15%, respectively, = 0.003).
Our findings suggest that patients with a FH+ likely experience a different subset of disease with higher frequency of family history of FMF, arthralgia, myalgia, and might have a better response to colchicine compared to FH-. Colchicine prophylaxis for PFAPA should be considered in FH+.
周期性发热、阿弗他口炎、咽炎、腺炎（PFAPA）是儿科人群中最常见的周期性发热综合征，但其发病机制尚不清楚。PFAPA曾被认为是散发性的，但家族聚集现象已被广泛观察到。
确定有家族史（FH+）的PFAPA患者与无家族史（FH-）的患者在人口统计学和临床方面的差异。
在一个包含以色列两个三级中心治疗的273例儿科PFAPA患者的人口统计学和临床数据的数据库中，31例（14.3%）有FH+。将FH+患者的数据与FH-患者的数据进行比较。此外，通过电话联系FH+患者的家庭成员（FMs）以获取更多人口统计学和临床细节。
与FH-组相比，FH+组有更多的肌痛（分别为56%和19%，P = 0.001）、头痛（分别为32%和2%，P = 0.016），以及更高的M694V突变携带频率（分别为54%和25%，P = 0.05）。与FH-组相比，秋水仙碱对FH+组似乎是一种更有益的治疗方法；然而，无统计学意义（P = 0.096）。FMs除了在发作期间有更多的关节痛（分别为64%和23%，P = 0.008）外，表现出与FH+组患者几乎相同的特征，并且与FH-组相比，他们有更多的口腔溃疡（分别为68%和43%，P = 0.002）、肌痛/关节痛（分别为64%和19%/16%，P < 0.0001），以及更高的家族性地中海热（FMF）家族史发生率（分别为45%和15%，P = 0.003）。
我们的研究结果表明，FH+患者可能经历不同的疾病亚型，FMF家族史、关节痛、肌痛的频率更高，并且与FH-患者相比，可能对秋水仙碱有更好的反应。对于FH+的PFAPA患者应考虑秋水仙碱预防。
