Background Periodic fever, aphthosis, pharyngitis, and adenitis (PFAPA) syndrome is an auto-inflammatory condition of unknown etiology. It is the second most common auto-inflammatory disease in our country, following familial Mediterranean fever. Previous studies showed that tonsillectomy represents efficient treatment options.
Objectives Our aim was to explore the main clinical features, response to tonsillectomy and long–term outcome of PFAPA pediatric patients in a single cohort. We assessed association of MEFV gene mutation with disease characteristics and treatment response.
Methods We reviewed medical records of patients who were diagnosed with PFAPA syndrome between the January 2010 and June 2016. All of the recorded 562 patients were called by the telephone and 365 (65%) of them were reached. Demographic, clinical and therapeutically features were taken from the patients' medical records. Data on clinical course and the disease outcome were collected by using a structured questionnaire which was fulfilled during the phone conversation between investigator and patients parents.
Results A total of 365 patients with PFAPA were examined: 154 (42%) of them were female. The mean age at disease onset, at diagnosis and at the investigation was 22.79±18.8, 41.7±21.7 and 77.14±31.35 months, respectively. The most common disease feature at the disease onset was: recurrent fever in 365 (100%), cryptic tonsillitis in 365 (100%) and aphtous stomatitis in 317 (88%). Sixty three (17%) patients met the criteria for both PFAPA and FMF. MEFV gene mutation analysis was performed in 93 (25%) patients and 51 of them (54%) had a heterozygous mutation in exon 10. Surgical treatment was performed in 158 (43%) patients. Complete clinical remission was achieved in 127 (80.3%) patients. Six (3%) showed no response to surgical treatment while 25 (15.8%) patients had a partial response. In patients with partial clinical response, frequency of fever attacks decreased significantly from 17.5 to 7.3 attack per year (p<0.05). Among patients who did not respond to tonsillectomy,11 (52.4%) were carrier of MEFV heterozygous mutation in exon 10. There was a statistically significant difference between patients with and without coexistence of FMF features, according to surgical treatment response (p<0.05).The mean age of resolution of PFAPA symptoms in patients who underwent tonsillectomy was 52±22.4 months and in patients without tonsillectomy 66±22.6 months.
Conclusions Although PFAPA symptoms usually resolve before age of eight, some patients' complaints persist. FMF should be considered in tonsilloadenoidectomy unresponsive PFAPA patients, especially in endemic regions like Turkey. Tonsilloadenoidectomy seems to be an effective treatment option for pediatric PFAPA patients.
Vanoni F, Theodoropoulou K, Hofer M. PFAPA syndrome: a review on treatment and outcome. Pediatr Rheumatol Online J 2016;14:38.
Batu ED, Kara Eroğlu F, Tsoukas P, et al. Periodic Fever, Aphthosis, Pharyngitis, and Adenitis Syndrome: Analysis of Patients From Two Geographic Areas. Arthritis Care Res (Hoboken) 2016;68:1859–1865.
Celiksoy MH, Ogur G, Yaman E, et al. Could familial Mediterranean fever gene mutations be related to PFAPA syndrome? Pediatr Allergy Immunol. 2016;27:78–82.
Disclosure of Interest None declared
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.