International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients

Abstract

We describe the largest cohort of PFAPA patients presented so far. We confirm that PFAPA may present with varied clinical manifestations and we show the limitations of the commonly used diagnostic criteria. Based on detailed analysis of this cohort, a consensus definition of PFAPA with better-defined criteria should be proposed.

Family History in Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) Syndrome

“…However, such patients have been reported in other studies and respond promptly to steroids and tonsillectomy, treatments used in PFAPA. 4,5,20,21 Fourth, genetic testing was not obtained in all PFAPA patients to rule out monogenic periodic fever syndromes, but most participants were followed up for several years and did not develop symptoms concerning for monogenic syndromes.…”

Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis Syndrome: Current Literature Review with a Case Report

“…Pharyngitis is seen in 65-100%, cervical adenitis in 61-100%, aphthous stomatitis in 38-71% (5). In addition, some patients may have headache, abdominal pain, diarrhea, joint aches, chills and redness in the body (5). Although antipyretics may provide benefit from time to time, antibiotics or anti-inflammatory drugs do not provide any benefit (2).…”

“…Stojanov et al (10) suggest the concept of T-cell proliferation raised by activation of immune system established on a genetic basis after a microbial trigger in pathogenesis of PFAPA. Patients who underwent tonsillectomy had no histopathologically significant pathology other than chronic inflammation (2,5).…”

Current Diagnosis and Treatment Models of Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Lymphadenitis Syndrome

“…In a multicentre cohort analysis by Hofer et al (16), 301 patients with PFAPA were evaluated and clinical manifestations were reported. The study results reported so far are presented in Table I (2,8,(17)(18)(19)(20)(21).…”

“…The average number of attacks is 11.5 per year (2,14). Aphthous ulcer is frequently seen on the lips and in buccal mucosa, accompanied by fever attacks in 40-70% of cases, and heals without scarring (2,16,17). Pharyngitis is detected in 90% of the patients.…”