PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience|
Salehzadeh, Farhad; Vahedi, Maryam; Hosseini-Asl, Saeid; Jahangiri, Sepideh; Habibzadeh, Shahram & Hosseini-Khotbesara, Mahsa
Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever,
aphthous stomatitis, pharyngitis and cervical adenitis. Although PFAPA is an auto inflammatory disease, it
doesn\'t have genetic basis such as other periodic fevers. This study evaluates the 12 common MEFV gene
mutations in patients with PFAPA syndrome.
21 patients with PFAPA syndrome who had diagnostic criteria were enrolled in this study and 12
common MEFV gene mutations i.e. P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R,
V726A, A744S, R761H, E148Q evaluated. All the patients were screened for MEFV gene mutations by a
reverse hybridization assay (FMF Strip Assay, Vienna lab, Vienna, Austria) according to the instructions
provided by the manufacturer.
The age of patients was between 6 months to 14 years, and 15 were males. Seven patients had
heterozygote and one had compound heterozygote (K695R, V725A) mutation. There were 4 alleles M694V, 3
alleles V726A, 1 allele E148Q and 1 allele K694R. No significant difference existed between mutated patients
with non-mutated in symptoms like aphthous and stomatitis, duration of attacks, episodes of fever and
response to treatment. Gaslini score test was not helpful to predict the probability of gene mutations.
About 30 percent of patients had MEFV gene mutations but these mutations did not play a main
role in presentation of PFAPA symptoms.
PFAPA; Gaslini Score; MEFV Gene; MEFV Gene Mutations