Coexistence of PFAPA syndrome and FMF in Armenian children

Results Coexistence of FMF and PFAPA was in 10 out of 28 patients (36%). They had earlier FMF onset (mean age of 1y. 3 mo.), frequent febrile attacks of abdominal pain and/or pleuritis, pericarditis (7 out of 10 patients), aphthous stomatitis (6 patients), tonsillitis with cervical lymphadenitis (9 children), as well as marked increase of acute inflammatory markers. An average age of PFAPA manifestation was 2 years 2 mo. MEFV gene M694V mutation was found in 8 patients out of 10 with the following distribution of genotypes:: one homozygous genotype (V726A/V726A), 5 compound heterozygotes: (M694V/V726A (2), M694V/F479L (2), M694V/E148Q (1), 4 heterozygotes (M694V/N (3 children), V726A/N (1). Isolated PFAPA syndrome was diagnosed in 18 out of 29 children (mean age of onset 2 years 4 mo.). They had repeated attacks of fever and tonsillitis, rare pleuritis or pericarditis (4 children), occasionally mild abdominal pain and a moderately increased acute phase reactants. 13 out of 18 patients were carriers of one mutation, mostly M694V/N (9 out of 13). The frequency of PFAPA attacks in both groups of patients was similar (1-2 times a month).