PFAPA syndrome

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Classification according to ICD-10
R50.8 Other specified fever
ICD-10 online (WHO version 2019)

The PFAPA syndrome (PFAPA stands for: p eriodisches F ieber , a phthöse stomatitis , P haryngitis , cervical A denitis ) was first described in 1987 in the United States as a typical disease. It is a rare disease from the group of periodic fever syndromes with typical, fairly uniform symptoms, which was described around 200 times worldwide by the year 2000. It is a disease that is, however, often underdiagnosed or often misdiagnosed. The pathogenesis has not yet been clarified (as of 2003).

Symptoms

The fever episodes usually manifest themselves before the age of five, beginning very regularly every 3–8 weeks with an abrupt rise in fever> 39 ° C, which resolves spontaneously after 3–6 days.

These fever episodes are accompanied by the eponymous symptom complex, but headaches, nausea, vomiting and abdominal pain are also typical. The children's growth and psychomotor development are not affected. The spontaneous remission between the ages of 4 and 8 is 30%. There are no specific laboratory changes.

Etiology and Diagnostics

PFAPA is a diagnosis of exclusion. In individual cases , the range of autoinflammatory syndromes must be taken into account in the differential diagnosis (especially cyclic neutropenia , familial cold auto-inflammatory syndrome , familial Mediterranean fever , hyper-IgD syndrome , TNF receptor-associated periodic fever syndrome ) as well as autoimmune , rheumatological , infectious and malignant processes . Since PFAPA sometimes occurs in families, corresponding genetic studies were carried out on families, which, however, did not reveal a specific gene locus. Specific laboratory parameters are not yet known. The etiology of the disease, which has not yet been clarified, seems to be the result of a disturbed, possibly gene-controlled immune reaction, very likely in the area of ​​monocytic IL-1β production : in patients with PFAPA, increased levels of IL-1β were measured from monocytes during the fever attacks, in about 20% of the patients had variants in the inflammasome - NLRP3 gene.

therapy

A therapeutically cautious attitude based on the symptoms appears to be indicated. The use of paracetamol , ibuprofen , prednisone , cimetidine and colchicine is being discussed . Various studies showed a significant improvement up to the cessation of symptoms (99 of 102 patients) after a tonsillectomy including an adenotomy . Since the disease disappears with increasing age, a Cochrane meta-study concluded that a special risk-benefit assessment must be made with regard to the operation depending on the frequency and severity of the disease flare-ups.

The attacks of fever respond neither to antibiotics nor to nonsteroidal anti-inflammatory drugs . An improvement is only seen after the administration of corticosteroids , but this does not prevent the occurrence of the next fever. In the USA as well as in Europe, the active ingredient anakinra (Kineret) is now (as of August 2013) used to treat PFAPA syndrome with good success because it specifically blocks interleukin-1 .

literature

  • F. Schindera et al .: Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis - The PFAPA syndrome . In: Monthly Pediatric Medicine, 2000 (6), 148, pp. 596-599, doi: 10.1007 / s001120050601
  • S. Stojanov et al .: Periodic fever syndromes . In: Monthly Pediatric Medicine , 2003 (1), 151, pp. 91-106, doi: 10.1007 / s00112-002-0614-9
  • E. Tasher et al .: PFAPA syndrome: new clinical aspects disclosed In: Arch Dis Child , 2006, 91, pp. 981-984.
  • GJ Ridder et al .: The PFAPA syndrome: Current state of knowledge and importance for the ENT doctor . In: Laryngorhinootologie , 81, 2002, pp. 635-639
  • CE Onderka, GJ Ridder: Periodic fever attacks and sore throats in children. Do you know PFAPA syndrome? In: Der Allgemeinarzt , 16, 2011, pp. 14-17
  • GJ Ridder, CE Onderka: Use and value of adeno-tonsillectomy in children and adolescents with PFAPA syndrome. In: Laryngorhinootologie , 90, 2011, pp. 609-616
  • CE Onderka, GJ Ridder: Periodic fever, aphthous stomatitis, pharyngitis and lymphadenitis (PFAPA syndrome) in adulthood. In: Deutsche Medizinische Wochenschrift , 137, 2012, pp. 471-475

Individual evidence

  1. ↑ SA Di Gioia, N Bedoni, A von Scheven-Gête, F Vanoni, A Superti-Furga, M Hofer, C. Rivolta: Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome . In: Scientific Reports . tape 5 , no. 5 , 2015, PMC 4437314 (free full text).
  2. ^ Proceedings of the National Academy of Sciences , 2011, doi: 10.1073 / pnas.1103681108 , quoted in Deutsches Ärzteblatt . ( Memento of the original from July 17, 2015 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice. @1@ 2Template: Webachiv / IABot / www.aerzteblatt.de
  3. ↑ a b Laeticia Kolly, Nathalie Busso, Annette von Scheven-Gete, Nathaliane Bagnoud, Isabelle Moix, Dirk Holzinger, Gregoire Simon, Annette Ives, Greta Guarda, Alexander So, Michael A. Morris, Michael Hofer: Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL-1b production . In: J Allergy Clin Immunol . 2013, 131, pp. 1635-1643
  4. ↑ P Pillet, S Ansoborlo, A Carrere et al .: (P) FAPA syndrome: value of cimetidine . In: Arch Pediatr. , 2000, 7, pp. 54-57
  5. ↑ D Tasher, M Stone, I Dalal, E Somekh: Colchicine prophylaxis for frequent periodic fever, aphthous stomatitis, pharyngitis and adenitis episodes . In: Acta Pediatr. , 97, 2008, pp. 1090-109
  6. ↑ Greg Licameli, Maranda Lawton, Margaret Kenna, Fatma Dedeoglu: Long-term Surgical Outcomes of Adenotonsillectomy for PFAPA Syndrome . In: Arch Otolaryngol Head Neck Surg . tape 138 , no. 10 , 2012, p. 902-906 , doi : 10.1001 / 2013.jamaoto.313 , PMID 23069819 .
  7. ↑ Thomas, Kenneth Tyson; Feder, Lawton, Edwards: Periodic fever syndrome in children . In: Journal of Pediatrics . tape 135 , 1999, pp. 1–5 , doi : 10.1016 / S0022-3476 (99) 70316-1 ( only abstract free [accessed November 20, 2016]).
  8. ↑ MJ Burton, AJ Pollard, JD Ramsden: Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA) . In: Cochrane Database Syst Rev . No. 9 , 2010, doi : 10.1002 / 14651858.CD008669 , PMID 20824883 .
  9. ↑ Cantarini L, Vitale A, Galeazzi M, Frediani B: A case of resistant adult-onset periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome responsive to anakinra . In: Clin Exp Rheumatol . 2012, 30, p. 593