Yusuke Takeuchi1, Tomonari Shigemura1, Norimoto Kobayashi1, Haruo Nagumo1, Masahiro Furumoto2, Kyo Ogasawara1, Hitomi Fujii3, Masahiro Takizawa3, Takashi Soga4, Hisanori Matoba5, Junya Masumoto6, Keitaro Fukushima7, Kiyoshi Migita8, Toshiyuki Ojima9, Yoh Umeda4, Kazunaga Agematsu1,4,5. 1. Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan. 2. Department of Pediatrics, Kofu Municipal Hospital, Kofu, Japan. 3. Department of Pediatrics, Azumino Red Cross Hospital, Azumino, Japan. 4. Children's Medical Center, Northern Yokohama Hospital, Showa University, Yokohama, Japan. 5. Department of Infection and Host Defense, Graduate School of Medicine, Shinshu University, Matsumoto, Japan. 6. Department of Pathology, Proteo-Science Center and Graduate School of Medicine, Ehime University, Toon, Japan. 7. Department of Pediatrics, Dokkyo Medical University, Shimotsuga, Japan. 8. Department of Rheumatology, Fukushima Medical University School of Medicine, Fukushima, Japan. 9. Department of Community Health and Preventive Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Abstract
AIM: The syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a common inflammatory disease that presents with periodic fever. We aimed to establish more specific diagnostic criteria for PFAPA based on the clinical characteristics of PFAPA patients in our directory. METHOD: The clinical, laboratory, genetic, and family history details of 257 Japanese PFAPA patients treated at our and other affiliated hospitals between April 2000 and April 2018 were analyzed along with quantitative measurements of the number of CD64 molecules on neutrophils, and the levels of serum inflammatory cytokines. The sensitivity and specificity of the criteria were calculated for several diseases. RESULTS: Because recurrent fevers were crucial findings, they were defined as the required criterion. Tonsillitis/pharyngitis with white moss were important accompanying signs. Other symptoms associated with febrile episodes were cervical lymphadenitis with tenderness, aphthous stomatitis, sore throat, vomiting, and headache but not cough. A total of 159 (62%) patients had a family history of recurrent fevers, indicating autosomal dominant inheritance. C-reactive protein levels were extremely elevated during febrile attacks but normal in attack-free periods. Serum immunoglobulin D levels were high in 72 of the 199 tested patients. Oral glucocorticoid and cimetidine were extremely effective in all and 51.6% of the patients, respectively. We defined the above as supportive criteria. These criteria were sensitive and specific enough to distinguish PFAPA from other recurrent fever diseases. Raised serum interferon-γ levels and remarkable CD64 expression on neutrophils during flare-ups were recognized, indicating they contributed to diagnosis. CONCLUSION: Our new criteria are useful for diagnosing PFAPA.
AIM: The syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a common inflammatory disease that presents with periodic fever. We aimed to establish more specific diagnostic criteria for PFAPA based on the clinical characteristics of PFAPA patients in our directory. METHOD: The clinical, laboratory, genetic, and family history details of 257 Japanese PFAPA patients treated at our and other affiliated hospitals between April 2000 and April 2018 were analyzed along with quantitative measurements of the number of CD64 molecules on neutrophils, and the levels of serum inflammatory cytokines. The sensitivity and specificity of the criteria were calculated for several diseases. RESULTS: Because recurrent fevers were crucial findings, they were defined as the required criterion. Tonsillitis/pharyngitis with white moss were important accompanying signs. Other symptoms associated with febrile episodes were cervical lymphadenitis with tenderness, aphthous stomatitis, sore throat, vomiting, and headache but not cough. A total of 159 (62%) patients had a family history of recurrent fevers, indicating autosomal dominant inheritance. C-reactive protein levels were extremely elevated during febrile attacks but normal in attack-free periods. Serum immunoglobulin D levels were high in 72 of the 199 tested patients. Oral glucocorticoid and cimetidine were extremely effective in all and 51.6% of the patients, respectively. We defined the above as supportive criteria. These criteria were sensitive and specific enough to distinguish PFAPA from other recurrent fever diseases. Raised serum interferon-γ levels and remarkable CD64 expression on neutrophils during flare-ups were recognized, indicating they contributed to diagnosis. CONCLUSION: Our new criteria are useful for diagnosing PFAPA.
Authors: E Deniz Gozen; Mehmet Yildiz; Sinem Kara; Firat Tevetoglu; Fatih Haslak; Amra Adrovic; Sezgin Sahin; Kenan Barut; İpek Ulkersoy; Neslihan Gücüyener; Aybuke Gunalp; H Murat Yener; Mehmet Ada; Ozgur Kasapcopur Journal: Rheumatol Int Date: 2022-09-18 Impact factor: 3.580