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THU0238 How To Diagnose and Prevent The Episodes of PFAPA Syndrome
  1. M. Gunes1,
  2. S. Cekic1,
  3. S.S. Kilic2
  1. 1Uludag University Medical Faculty, Bursa, Turkey
  2. 2Pediatric Rheumatology, Uludag University Medical Faculty, Bursa, Turkey


Background Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is the most frequent repetitive fever syndrome in childhood. It is characterized with fever episodes lasting for about three to six days, once every three to eight weeks.

Objectives In this study, we aim to elucidate the clinical clues that will facilitate the identification of PFAPA which is a clinical diagnosis and the efficacy and safety of colchicine prophlaxis in a large cohort. Additionally, we intend to investigate the relation between MEFV gene mutations and clinical findings of PFAPA.

Methods Clinical and laboratory data of 400 consecutive patients with PFAPA syndrome followed up at the department of Pediatric Immunology and Rheumatology Uludag University Faculty of Medicine, were collected from the medical records retrospectively.

Results Four-hundred children (256 male, 144 female), the mean age at diagnosis was 4.2 ± 2.2 years, were involved in our study. During the episodes, the mean number of WBC was high (12724,7/mm3) with predominantly neutrophils. The mean number of monocytes was found to be 1256.2/mm3 and 90.2% of the patients had monocytosis. Serum amiloid A and C reactive protein levels were high in 84.6% and 77.8% of the patients, respectively. Procalcitonin was negative in 97.3% of the patients. MEFV gene heterozygous mutation was determined in 57 of the 231 patients (24.7%) tested. Colchicine prophylaxis was administered in 356 patients. The mean duration between episodes was prolonged from 18.8 to 49.5 days by prophylactic colchicine therapy. During the episodes, a single dose of 1 mg/kg methyl prednisolone was prescribed. Four patients underwent tonsillectomy.

Conclusions Our study, include the largest number of patients with PFAPA syndrome in the literature. It is particularly important to assess and to demonstrate the high rate of response to colchicine prophylaxis in patients with PFAPA syndrome, especially those with MEFV variant. In blood screening neutrophilia associated with monocytosis and low procalcitonin level could contribute to diagnosis.

  1. Marshall GS, Edwards KM, Butler J, Lawton AR. Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr 1987; 110:43- 6.

  2. Frenkel J, Kuis W. Overt and occult rheumatic diseases: the child with chronic fever. Best Pract Res Clin Rheumatol 2002; 16:443- 69.

  3. John CC, Gilsdorf JR. Recurent fever syndrome in children. Ped Infect Dis J 2002; 21:1071

  4. Thomas KT, Feder HM Jr, Lawton AR, Edwards KM. Periodic fever syndrome in children. J Pediatr 1999; 135:15- 21.

  5. Scholl PR. Periodic fever syndromes. Curr Opin Pediatr 2000; 563- 6.

  6. Padeh S, Brezniak N, Zemer D, Pras E, Livneh A, Langevitz P, et al. Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: clinical characteristics and outcome. J Pediatr 1999; 135:98- 101.

Disclosure of Interest None declared

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