Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: A review

Abstract

Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is the most common periodic fever condition in children, with most cases appearing by the age of 5. Although PFAPA is generally a self-limited condition, it can have a major impact on a child's quality of life, as well as that of their family. Recent research has continued to shed light on the genetic and immunologic factors that play a role in the pathogenesis of PFAPA. There also exists significant heterogeneity in treatment strategies, and progress has been made to develop evidence-based management strategies and establish a standard of care. This review will outline current knowledge regarding the pathogenesis of PFAPA, as well as treatment strategies and our clinical experience.

Development and implementation of the AIDA International Registry for patients with Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis syndrome

“…Indeed, current evidence on rare diseases is almost based on small individual studies conducted by one or only a few centers (29). On the contrary, a worldwide basis of data collection will ultimately allow the resolution of old riddles about PFAPA syndrome, such as its genetic origin or influence -at least in some cases -which is currently controversial and not fully understood (1,30,31); the boundary line between some PFAPA subgroups and Behçet's disease, which may be very fine in some cases (16,32); to describe uncommon symptoms and eventually individuate new subgroups of patients, who respond differently to various treatments (33); to better understand the different behaviors of the disease according to the age at disease onset. This registry may also join the research ambitions toward the achievement of a personalized medicine aimed at choosing the right treatment according to baseline features or risks to develop severe manifestations and potential longterm complications.…”

“…Patients experience complete wellness between episodes, with normal growth and development when PFAPA arises during childhood. This autoinflammatory condition has a favorable long-term outcome and generally resolves as the child grows up; however, it can have a significant impact on both the child and her/his caregivers' quality of life (9,11,13,15,16).…”

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome (PFAPA) or recurrent urinary tract infections: a case report

“…Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is the most common non-genetic form of recurrent fever syndrome in children with an estimated incidence rate of 2.3 in every 1000 children under the age of 5 years old based on one study from Norway, although the exact incidence rate of PFAPA is still unknown [ 2 , 9 ].…”

“…Urinary tract infection (UTI) is among the most common infections in children [ 1 ]. Diagnosis of UTI in children can be challenging as it presents with variable and sometimes vague clinical signs and symptoms, and in some cases only fever may be the presenting sign [ 2 ].…”

Colchicine versus cimetidine: the better choice for Periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome prophylaxis, and the role of MEFV gene mutations

“…Fevers occur in an approximately clock-like manner every 3–8 weeks and usually last 3–5 days during some periods of the disease. Children have no symptoms or signs between the episodes of fever, and this syndrome does not affect normal growth and development [ 2 ]. Most of the time, these febrile attacks resolve spontaneously after childhood; However, there is a few risks of relapse in adulthood [ 3 ].…”