Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (pfapa) syndrome in children
1State Higher Educational Institution "Ivano-Frankivsk National Medical University", Department Of Children Diseases Of Postgraduate Medical Education Faculty, Ivano-Frankivsk, Ukraine.
Insights
Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is often diagnosed late in children, leading to unnecessary treatments. Early recognition by pediatricians and otolaryngologists is crucial for timely PFAPA syndrome diagnosis and management.
Area of Science:
- Pediatric immunology
- Autoinflammatory diseases
- Clinical diagnostics
Background:
- Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is an autoinflammatory condition.
- Delayed diagnosis is common due to lack of suspicion by pediatricians and otolaryngologists for recurrent pharyngitis and stomatitis.
- This leads to prolonged, unnecessary treatments like antibiotic therapy.
Observation:
- A case report details a 7-year-old boy with PFAPA syndrome diagnosed after four years of recurrent symptoms.
- The child experienced high fevers, sore throats, and tonsillar exudates starting at age two.
- Extensive, repeated testing and treatments were administered over four years.
Findings:
- The study highlights a significant delay in diagnosing PFAPA syndrome.
- The case illustrates the extensive medical interventions, including frequent antibiotic use, necessitated by late diagnosis.
- This underscores the diagnostic challenges and the impact on patient care.
Implications:
- Emphasizes the need for increased awareness of PFAPA syndrome among primary care physicians and specialists.
- Highlights the importance of early and accurate diagnosis to avoid unnecessary treatments and improve patient outcomes.
- Suggests educational initiatives for healthcare providers on recognizing PFAPA syndrome symptoms.
Introduction:
Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome refers to a group of primary immunodeficiencies, namely autoinflammatory diseases. Most pediatricians and otolaryngologists do not suspect PFAPA syndrome when treating recurrent pharyngitis (according to Ukrainian classification - tonsillitis) and stomatitis. Therefore, patients with a given syndrome receive unnecessary treatment (antibiotic therapy or antiviral drugs) and the diagnosis is made late. The aim of the research was to provide pediatricians, family physicians and otolaryngologists with information on the importance of early diagnosis of PFAPA syndrome.
Materials And Methods:
The analysis of the prevalence and diagnosis of PFAPA syndrome in Ukraine and worldwide has been made as well as a late diagnosis of PFAPA syndrome in a child living in Ivano-Frankivsk, Ukraine has been described (case report).
Results:
The Сase report 7-year-old boy, who grows and develops normally. The symptoms of pharyngitis including high body temperature (>40 º С), sore throat and white spots on the tonsils appeared for the first time at the age of two years. The boy received antibacterial drugs about 10 times a year. During a four-year period of recurrent episodes of the disease antimicrobial susceptibility testing to determine susceptibility of the oropharyngeal flora to the antibiotics were continuously performed, different blood tests for herpes viruses, Epstein-Barr virus infection and cytomegalovirus in particular were made using the enzyme immunoassay (EIA) and polymerase chain reaction (PCR) in addition to long-term treatment.
Conclusions:
An example of late diagnosing PFAPA syndrome (four years after the onset of first symptoms) resulting in regular examinations, medical manoeuvres, outpatient and inpatient treatment, use of antibiotic therapy including intravenous injections on a monthly basis has been studied.
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