Karali Y, Karali Z, Ercan I, Cekic S, Altinok B , et al.
Clinical pediatrics •
The differential diagnosis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) syndrome from recurrent upper respiratory tract infections (URTIs) and familial Mediterranean fever (FMF) presents significant clinical challenges due to shared symptomatic presentations. This study aimed to identify diagnostic variables that differentiate PFAPA from URTI and FMF by assessing similarities among cases based on demographic, clinical, and laboratory findings and subsequently forming homogeneous and heterogeneous groups. We included patients diagnosed with PFAPA syndrome, URTI, and acute FMF admitted to the hospital for fever attacks. Demographic data, clinical manifestations, and laboratory results were collected from medical records. Cluster analysis was applied to identify similarities and differences among patients based on these variables. A total of 566 patients (234 with PFAPA, 224 with FMF, 108 with URTI) were analyzed. Cluster analysis, based on demographic, medical history, and clinical/laboratory data, identified 3 distinct clusters: Cluster 1 (n = 231) consisted mostly of URTI patients, Cluster 2 (n = 233) of PFAPA patients, and Cluster 3 (n = 112) of FMF patients, with a similarity level of 0.357. Significant variables distinguishing PFAPA from both FMF and URTI ( < .05) included recurrent fevers before the age of 5 years, the presence of aphthous stomatitis, cervical lymphadenitis, and pharyngitis, an asymptomatic course between fever attacks, metallic taste during attacks, and elevated C-reactive protein and serum amyloid A levels during attacks. This study provides a comprehensive evaluation of PFAPA, using clinical and laboratory characteristics, and complements existing diagnostic criteria for distinguishing PFAPA from conditions commonly confused with it, such as URTI and FMF. The identified differences across demographic, clinical, and laboratory domains provide a strong basis for improving standardized, accurate diagnostic approaches for these disorders.
Güngörer V, Ünal D, Çakan M, Ayduran S, Gül Ü , et al.
Clinical rheumatology •
Syndrome of undifferentiated recurrent fever (SURF) is an autoinflammatory disorder that is recognised in an increasing number of patients. In this study, we aimed to assess the data of SURF patients from the main reference centres in our country. Data for this retrospective multicentre observational cohort study were obtained from the records of SURF patients aged 0-18 years who were followed up in 10 pediatric rheumatology clinics in Türkiye between 2010 and June 2023. Patients with recurrent fever that could not be explained by periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) and hereditary recurrent fevers and had no other cause were included in the study. Of the 134 patients included in the study, 74 (55.2%) were male. The median age at diagnosis was 67 months. The most common symptom was abdominal pain in 98 (73.1%), arthralgia in 82 (61.2%), malaise in 77 (57.5%). The age at symptom onset was ≤ 5 years in 109 patients (81.3%). Pharyngitis was more common symptom in children aged ≤ 5 years (p = 0.008), headache, arthralgia, chest pain were more common findings in children > 5 years (p = 0.008, p = 0.032, p = 0.045). There were 113 patients receiving colchicine alone or in combination therapy and 74.3% of them achieved complete or partial remission. The presence of abdominal pain (p = 0.021, OR = 0.254) increased the remission rate with colchicine. SURF patients present with a wide range of clinical manifestations. Distinguishing between SURF and PFAPA is not concrete. Further omics studies will enlighten whether there is a true group of SURF. Key Points • SURF is an autoinflammatory disease that is becoming increasingly recognised. • The clinical manifestations of SURF are quite heterogeneous. • Colchicine and anti-IL-1 treatment is effective in most SURF patients. • It is controversial whether it should be called SURF or PFAPA-like syndrome, especially in children aged ≤ 5 years.
Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome and Behçet's disease (BD) are non-monogenic autoinflammatory disorders with common clinical characteristics and genetic features. We aimed to review both patients' clinical characteristics and quality of life. Retrospective data were collected on patients' clinical and laboratory characteristics with PFAPA and BD between 2019 and 2022. The quality of life questionnaire (Pediatric Quality of Life Inventory) form was completed by the parents of all patients and the control group. The study included 150 cases aged between 2 and 18, including 60 with PFAPA, 30 BD patients and 60 healthy volunteers. The duration of attacks in males with PFAPA was longer than that in females ( = 0.015). During attacks, the mean acute phase reactants of PFAPA patients were higher than those of BD ( = 0.010). In addition, there was a statistically significant relationship between the use of colchicine and a decrease in attack frequency in BD patients at 89.29% ( = 0.001 < 0.05) and in PFAPA patients at 88% ( = 0.001 < 0.05). Precisely, 61.67% of PFAPA ( = 37) and 73.33% of BD patients ( = 22) exhibited poor quality of life regarding daily activities and school attendance. Limited data on the quality of life of paediatric BD and PFAPA syndrome are available. During the attacks of patients with PFAPA and BD, acute-phase reactants were higher in PFAPA patients. Colchicine is an effective medication in reducing attacks in both groups. Effective and timely treatment is indispensable to improve quality of life.
Pediatrics international : official journal of the Japan Pediatric Society •
Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is the most frequent repetitive fever syndrome in childhood. It is characterized by fever episodes lasting for approximately 3-6 days, once every 3-8 weeks. Clinical and laboratory data for PFAPA syndrome patients between January 2010 and December 2014 followed up at a tertiary pediatric care hospital were reviewed. Four hundred children (256 male, 144 female; mean age at diagnosis, 4.2 ± 2.2 years), were enrolled in the study. During the episodes, mean leukocyte number was high (12 725/mm ) with predominant neutrophils. The mean number of monocytes was 1256/mm , and 90.2% had monocytosis. Serum amyloid A and C-reactive protein were high in 84.6% and in 77.8% of the patients, respectively. Mediterranean fever (MEFV) gene heterozygous mutation was identified in 57 of the 231 patients (24.7%) in whom genetic analysis had been performed. The most frequent mutation was heterozygous M694V (10%, n = 23). Extension of between-episode interval following prophylaxis was noted in 85% of those on regular colchicine treatment (n = 303). In the colchicine group, between-episode interval was prolonged from 18.8 ± 7.9 days (before colchicine treatment) to 49.5 ± 17.6 days on prophylactic colchicine therapy; also, prophylactic treatment was more effective in reducing episode frequency in patients with MEFV gene variant (n = 54, 96%) than in those without (n = 122, 80%; P = 0.003). This study has involved the largest number of PFAPA syndrome patients in the literature. It is particularly important to assess and to demonstrate the high rate of response to colchicine prophylaxis in PFAPA syndrome patients, especially those with MEFV variant. On blood screening, neutrophilia associated with monocytosis and low procalcitonin could contribute to diagnosis.