title: PFAPA syndrome is not a sporadic disease.
abstract: OBJECTIVE
  To determine whether PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) patients have a positive family history (FH) for recurrent fever syndromes.
  
  
  METHODS
  For all patients with PFAPA seen in two paediatric rheumatology centres (Romandy, Switzerland and Bordeaux, France), parents were interviewed to record the FH for periodic fever. As controls, we interviewed a group of children without history of recurrent fever.
  
  
  RESULTS
  We recruited 84 patients with PFAPA and 47 healthy children. The FH for recurrent fever (without an infectious cause and recurring for at least half a year) was positive in 38/84 (45%), and was positive for PFAPA (diagnosis confirmed by a physician) in 10/84 (12%) of the PFAPA patients. For 29 of the 38 patients with positive FH, the affected person was a sibling or a parent. None of the healthy children had a positive FH for recurrent fever or PFAPA. A positive FH for rheumatological diseases was seen in both groups of children.
  
  
  CONCLUSIONS
  These data show that a significant percentage of PFAPA patients present a positive FH of recurrent fever and PFAPA. This familial susceptibility suggests a potential genetic origin for this syndrome.
authors.affiliation: Pediatric Rheumatology, Department of Pediatrics, BH11- CHUV, CH-1011 Lausanne, Switzerland.
authors.forename: Marie
authors.initials: M
authors.lastname: Cochard
authors.forename: Johanna
authors.initials: J
authors.lastname: Clet
authors.forename: Lan
authors.initials: L
authors.lastname: Le
authors.forename: Pascal
authors.initials: P
authors.lastname: Pillet
authors.forename: Xavier
authors.initials: X
authors.lastname: Onrubia
authors.forename: Thierry
authors.initials: T
authors.lastname: Guéron
authors.forename: Mohammed
authors.initials: M
authors.lastname: Faouzi
authors.forename: Michaël
authors.initials: M
authors.lastname: Hofer
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005335:Fever of Unknown Origin / Q000175:diagnosis* / Q000209:etiology; D006801:Humans; D008199:Lymphadenitis / Q000175:diagnosis* / Q000209:etiology; D008297:Male; D010507:Periodicity; D010612:Pharyngitis / Q000175:diagnosis* / Q000209:etiology; D012008:Recurrence; D013281:Stomatitis, Aphthous / Q000175:diagnosis* / Q000209:etiology; D013577:Syndrome; D055815:Young Adult