Periodic fever, aphthous stomatitis, pharyngitis and adenitis

The PFAPA syndrome ( PFAPA stands for: periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis ) was first described in 1987 in the United States than typical disease. It is a rare disease with a typical, fairly uniform expiring symptoms which have been described worldwide about 200 times until 2000, but which is possibly under - or often misdiagnosed. The pathogenesis is not yet known (as of 2003 ).

Symptoms

The fever episodes usually manifest themselves before the age of five, start very regularly every 3-8 weeks with abruptly rising fever > 39 ° C, which regresses spontaneously after 3-6 days.

These are accompanied fever episodes with the eponymous symptom complex, but also headache, nausea, vomiting and abdominal pain are typical. Neither growth nor the psychomotor development of children are affected. The spontaneous remission between 4 and 8 years of age is 30 %. Specific laboratory chemical changes are not available.

Etiology and diagnosis

PFAPA is a diagnosis of exclusion. In individual cases, the spectrum of autoinflammatory syndromes must be considered in the differential diagnosis (especially cyclic neutropenia, Familial Cold Auto -inflammatory Syndrome, Familial Mediterranean fever, hyper- IgD syndrome, TNF receptor - associated periodic fever syndrome ) and autoimmune, rheumatologic, infectious and malignant processes. PFAPA family occurs not more frequently. Specific laboratory parameters are not yet known. The hitherto unknown etiology of the disease seems to result of a disturbed, possibly gengesteuerten immune response, most likely to be in the area of ​​monocytic IL- 1β production: in patients with PFAPA increased distributions of IL- 1β from monocytes were measured during the fever, at about 20% of patients were variants in the NLRP3 inflammasome - gene.

Therapy

A therapeutically careful, be indicative of the symptoms setting is appropriate. It discusses the use of acetaminophen, ibuprofen, prednisone, cimetidine or colchicine. In various studies, a significant improvement until the cessation of symptoms (99 of 102 patients) after a tonsillectomy adenoidectomy showed incl. As the disease disappears with age, in a meta-study, the conclusion is drawn that a specific risk - benefit assessment must be made regarding the OP, depending on the frequency and severity of disease relapses.

The fever speak neither antibiotics nor NSAIDs. Only after the administration of corticosteroids shows an improvement, but this does not prevent the occurrence of the next fever shove. In the U.S. and in Europe the drug anakinra ( Kineret ) is now (as of August 2013) successfully used in the treatment of PFAPA syndrome as it specifically interleukin -1 blocked.