Background: PFAPA syndrome is a recurrent febrile disease first described in 1987 by Marshall and characterized by periodic fever, aphtous stomatitis, pharyngitis and cervical adenitis. Since this first description no clear etiology has been found. In opposite to other auto-inflammatory diseases, no genetic origin was underlined and no familial tendency was reported until now. To better understand this disease, we created a European web-based multicentric registry with the participation of 8 countries and 14 rheumatologic centers.
Aim: To investigate the eventual familial tendency to present PFAPA
or an other chronic inflammatory disease. Patients and methods: In 2 of the centers participating to the registry (Lausanne-Geneva, Switzerland and Bordeaux, France), we questioned all patients or their parents during a phone call interview to complete the family history. We used the same questionnaire for a control group taken from a general pediatric consultation. In the
questionnaire, we asked for positive family history of recurrent fevers,
PFAPA, and rheumatologic diseases (chronic inflammatory).
Results: Eighty-four patients with PFAPA were recruited: 45 in Lausanne-Geneva and 39 in Bordeaux and were compared to 47 control children. Family history for recurrent fever was positive in 19/45 (42%, CI95: 28-56) and 18/39 (46%, CI95: 30-62) PFAPA patients from Lausanne-Geneva and Bordeaux respectively, and always negative in the control group. 6/45 (13%, CI95: 3-23) and 3/39 (8%, CI95: 0-17) PFAPA patients had a family member with PFAPA, but none in the control group. The differences between both PFAPA group and the controls are statistically significant. The family history
for rheumatologic diseases (chronic inflammatory) seemed to be more frequently positive in the Swiss PFAPA group (14/45 = 31%) than the French PFAPA group (5/39 = 18%) and the controls (7/47 = 20%), but the differences are not significant.
Conclusions: These data show that history of recurrent fever and PFAPA is found more often in patients with PFAPA than in the general pediatric population. They suggest a familial susceptibility and a potential genetic origin for the PFAPA syndrome. This opens a wider spectrum for future research.