Izmir Tepecik Eğitim ve Araştırma Hastanesi

Validity of the Eurofever/PRINTO genetic FMF classification criteria in FMF and PFAPA patients carrying non-confirmatory MEFV gene mutations.

Familial Mediterranean Fever (FMF) and Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) syndrome are autoinflammatory diseases that may present with similar clinical symptoms. The presence of a non-confirmatory MEFV gene variant and overlapping clinical features can complicate differential diagnosis between the two conditions. The aim of this study is to evaluate the distinctive power of the Eurofever/PRINTO classification criteria, developed for FMF cases with non-confirmatory MEFV genotypes, in differentiating FMF from PFAPA. The study included 126 patients diagnosed with FMF according to the Yalcinkaya-Ozen diagnostic criteria who also carried a non-confirmatory MEFV genotype as defined in the Eurofever/PRINTO genetic and clinical FMF classification criteria. For comparison, data from 32 patients diagnosed with PFAPA according to the modified Marshall criteria and carrying a non-confirmatory MEFV genotype were also included in the analysis. The diagnostic performance of the Eurofever/PRINTO criteria was evaluated both in patients with FMF and PFAPA. The Eurofever/PRINTO genetic and clinical FMF criteria demonstrated a sensitivity of 96.8%, specificity of 71.9%, positive predictive value (PPV) of 93.1%, and negative predictive value (NPV) of 85.2%; the positive likelihood ratio (PLR) was 3.43 and the negative likelihood ratio (NLR) was 0.04. It was observed that 28.1% of PFAPA patients carrying a non-confirmatory MEFV genotype were misclassified as having FMF. The Eurofever/PRINTO genetic FMF classification criteria may serve as a helpful tool in identifying FMF patients and distinguishing them from PFAPA patients who share common genetic and clinical features. However, it should be considered that this set of criteria may lead to a misdiagnosis of FMF in PFAPA patients carrying non-confirmatory MEFV variants. Key Points • Our study highlights the high sensitivity but limited specificity of the Eurofever/PRINTO classification criteria in distinguishing FMF from PFAPA among patients with non-confirmatory MEFV variants, emphasizing the need for cautious interpretation in genetically overlapping cases. • Our findings underscore the importance of integrating clinical judgment with genetic and classification criteria when diagnosing autoinflammatory diseases in regions with a high prevalence of MEFV variants.

A comparative study for the clinical features in children with PFAPA syndrome who were diagnosed before and after the age of five.

Clinical Usefulness of Acute-Phase Markers in Distinguishing between PFAPA and Other Exudative Tonsillitis Causes: A Methodological Study.

We investigated the practical use of procalcitonin (PCT), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) and complete blood count (CBC) parameters in distinguishing periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA) attacks from exudative tonsillitis associated with group A streptococcus (GAS) and Epstein-Barre virus (EBV). The study population consisted of cases with exudative tonsillitis who had been subsequently diagnosed as PFAPA, EBV, and GAS tonsillitis through a period of 6 years. We retrieved the CBC, ESR, CRP and PCT data from patients' medical records. Of the patients, 47 (35.6%) had PFAPA, 36 (27.3%) had GAS and 49 (37.1%) had EBV tonsillitis. Median CRP, ESR and PCT values of patients with PFAPA were 78 (17-92) mg/dl, 44 (11-83) mm/h, 0.16 (0.01-1.45) ng/ml, respectively. The CRP and ESR levels were significantly higher in PFAPA and GAS groups compared with the EBV group (p = 0.001). There was no significant difference between the groups regarding the PCT levels. The study indicated no benefit of PCT in distinguishing PFAPA from the others. However, we found that CRP, ESR, and CBC parameters could be useful in identifying PFAPA and GAS than EBV tonsillitis.