Periodic fever, aphthous stomatitis, pharyngitis and adenitis

Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome is a medical condition, typically starting in young children, in which high fever occurs periodically at intervals of about 3-5 weeks, frequently accompanied by aphthous-like ulcers, pharyngitis and/or cervical adenitis (cervical lymphadenopathy). The syndrome was described in 1987 and named two years later.[1] [2][3]

Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis
Other namesPeriodic fever aphthous pharyngitis and cervical adenopathy (PFAPA)
SpecialtyPediatric, Rheumatology, Immunology
SymptomsFever recurring on a ~2-6 week cycle
TreatmentTonsillectomy
MedicationCorticosteroids, Colchicine, Cimetidine

Signs and symptoms

The key symptoms of PFAPA are those in its name: periodic high fever at intervals of about 3–5 weeks, as well as aphthous ulcers, pharyngitis and/or adenitis. In between episodes, and even during the episodes, the children appear healthy. At least 6 months of episodes. Diagnosis requires recurrent negative throat cultures and that other causes (such as EBV, CMV, FMF) be excluded.[3]

Cause

The cause of PFAPA is unknown.[4] It is frequently discussed together with other periodic fever syndromes.[3]

Possible causes include primarily genetic factors or it may be due to an initial infection.

The condition appears to be the result of a disturbance of innate immunity.[5] The changes in the immune system are complex and include increased expression of complement related genes (C1QB, C2, SERPING1), interleukin-1-related genes (interleukin-1B, interleukin 1 RN, CASP1, interleukin 18 RAP) and interferon induced (AIM2, IP-10/CXCL10) genes. T cell associated genes (CD3, CD8B) are down regulated. Flares are accompanied by increased serum levels of activated T lymphocyte chemokines (IP-10/CXCL10, MIG/CXCL9), G-CSF and proinflammatory cytokines (interleukin 6, interleukin 18). Flares also manifest with a relative lymphopenia. Activated CD4(+)/CD25(+) T-lymphocyte counts correlated negatively with serum concentrations of IP-10/CXCL10, whereas CD4(+)/HLA-DR(+) T lymphocyte counts correlated positively with serum concentrations of the counterregulatory IL-1 receptor antagonist.

Diagnosis

Treatment

PFAPA syndrome typically resolves spontaneously. Treatment options are used to lessen the severity of episodes.[6] Treatment is either medical or surgical.

One treatment often used is a dose of a corticosteroid at the beginning of each fever episode.[4] A single dose usually ends the fever within several hours.[4] However, in some children, they can cause the fever episodes to occur more frequently.[4] Interleukin-1 inhibition appears to be effective in treating this condition.[5]

There has been some evidence for the use of medications to reduce the frequency of flare-ups, including colchicine and cimetidine[7]

Surgical removal of the tonsils appears to be beneficial compared to no surgery in symptom resolution and number of future episodes.[6] The evidence to support surgery is; however, of moderate quality.[6]

Prognosis

According to present research, PFAPA does not lead to other diseases and spontaneously resolves as the child gets older, with no long term physical effects.[2] [8] [9] However, PFAPA has been found in adults and may not spontaneously resolve.[10]

References
  1. Thomas, Kenneth Tyson; Feder, Henry M.; Lawton, Alexander R.; Edwards, Kathryn M. (1999). "Periodic fever syndrome in children". The Journal of Pediatrics. 135 (1): 15–21. doi:10.1016/S0022-3476(99)70321-5. ISSN 0022-3476. PMID 10393598.
  2. Padeh, Shai; et al. (1999). "Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: Clinical characteristics and outcome". Journal of Pediatrics. Mosby, Inc. 135 (1): 98–101. doi:10.1016/S0022-3476(99)70335-5. PMID 10393612. Archived from the original on 2013-02-22. Retrieved 2008-03-07.
  3. Long, Sarah S. (1999). "Syndrome of Periodic Fever, Aphthous stomatitis, Pharyngitis, and Adenitis (PFAPA) - What it isn't. What is it?". Journal of Pediatrics. Mosby, Inc. 135 (1): 1–5. doi:10.1016/S0022-3476(99)70316-1. PMID 10393593. Archived from the original on 2008-05-12. Retrieved 2008-03-07.
  4. Vigo, G; Zulian, F (Nov 2012). "Periodic fevers with aphthous stomatitis, pharyngitis, and adenitis (PFAPA)". Autoimmunity Reviews. 12 (1): 52–5. doi:10.1016/j.autrev.2012.07.021. PMID 22878272.
  5. Stojanov S, Lapidus S, Chitkara P, Feder H, Salazar JC, Fleisher TA, Brown MR, Edwards KM, Ward MM, Colbert RA, Sun HW, Wood GM, Barham BK, Jones A, Aksentijevich I, Goldbach-Mansky R, Athreya B, Barron KS, Kastner DL (2011) Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. Proc Natl Acad Sci U S A
  6. Burton, Martin J.; Pollard, Andrew J.; Ramsden, James D.; Chong, Lee-Yee; Venekamp, Roderick P. (30 December 2019). "Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA)". The Cochrane Database of Systematic Reviews. 12: CD008669. doi:10.1002/14651858.CD008669.pub3. ISSN 1469-493X. PMC 6953364. PMID 31886897.
  7. Vanoni, Federica; Theodoropoulou, Katerina; Hofer, Michaël (27 June 2016). "PFAPA syndrome: a review on treatment and outcome". Pediatric Rheumatology. 14 (1): 38. doi:10.1186/s12969-016-0101-9. PMC 4924332. PMID 27349388.
  8. "PFAPA Syndrome - Pediatrics".
  9. "Periodic Fever Syndrome".
  10. Padeh, S; Stoffman, N; Berkun, Y (May 2008). "Periodic fever accompanied by aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA syndrome) in adults" (PDF). The Israel Medical Association Journal. 10 (5): 358–60. PMID 18605359.
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