Introduction: Periodic Fever aphthous stomatitis, pharyngitis and adenitis (PFAPA) is an autoinflammatory disease that have overlapping clinical features with Familiam Mediterranean Fever ( FMF).
We aimed to describe a cohort of patients who were diagnosed with both PFAPA and FMF (PFAPA/FMF) and compare them to sole PFAPA (sPFAPA) patients.
Methods: clinical and laboratory data of all patients diagnosed with sPFAPA or PFAPA/FMF in 2 main Israeli medical centers were collected. Clinical and genetic data were compared.
Results: Out of 270 patients with PFAPA 51 (18.9%) were also diagnosed with FMF (PFAPA/FMF).
Over half of PFAPA patients were Mediterranean ancestry. .
Genetic data on the 9 most common MEFV mutations were available on 45 children (88%) of PFAPA/FMF group. 2 mutations were found in 15 children (33.3%), 27 patients (52%) had one mutation and 3 patients (5.9%) had no mutations.
Abdominal pain myalgia and arthralgia were more commonly reported in the PFAPA/FMF group compared to the sPFAPA group (90% vs 49% p
Colchicine were more commonly used in the PFAPA/FMF group compared to the puPFAPA group (88% vs 29% p<0.0001) and alleviation of PFAPA symptoms with colchicine was similar (75% vs 63% p-0.23).
Discussion: PFAPA and FMF are commonly associated in Mediterranean ancestry patients. , abdominal pain myalgia and arthralgia were more commonly reported in PFAPA/FMF patients.
The association between the PFAPA and FMF may suggest similar pathogenesis and genetic influence of the MEFV gene.
