PFAPA syndrome is not a sporadic disease.
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.
Cochard
Marie
M
Pediatric Rheumatology, Department of Pediatrics, BH11- CHUV, CH-1011 Lausanne, Switzerland.
Clet
Johanna
J
Le
Lan
L
Pillet
Pascal
P
Onrubia
Xavier
X
Guéron
Thierry
T
Faouzi
Mohammed
M
Hofer
Michaël
M
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