Could familial Mediterranean fever gene mutations be related to PFAPA syndrome?

Abstract

Most patients presenting with PFAPA syndrome have heterozygous MEFV gene mutations. Whether carrying a heterozygous MEFV gene is the primary cause of this syndrome requires further investigation.

Is colchicine more effective to prevent periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis episodes in Mediterranean fever gene variants?

“…Although it is generally considered a sporadic disease, frequent occurrence in members of the same family and emergence of common genetic mutations (NLRP3, MEFV, TNFRSF1A, MVK, AIM 2 ) in the periodic fever syndrome spectrum suggest a probable genetic transmission of PFAPA syndrome. 7,[9][10][11][12] In the present study, the prevalence of positive family history (parents and siblings) was 31.2%, but there was no finding indicative of autosomal dominant inheritance.…”

“…Additionally, in a recent study from Turkey the prevalence of heterozygous R202Q mutation in a healthy Turkish population was 33.8% . The prevalence of MEFV gene mutations is between 8% and 66% in PFAPA patients in various studies . Dagan et al .…”

“…identified M694V (15.7%) as the most common mutation in PFAPA patients, followed by A726V (8%) and E148Q (3.5%). Celiksoy et al . reported a high prevalence of MEFV gene variants (66%), mostly R202Q mutation, in PFAPA syndrome patients.…”

“…20 The prevalence of MEFV gene mutations is between 8% and 66% in PFAPA patients in various studies. 7,12 Dagan et al 9 identified M694V (15.7%) as the most common mutation in PFAPA patients, followed by A726V (8%) and E148Q (3.5%). Celiksoy et al 12 reported a high prevalence of MEFV gene variants (66%), mostly R202Q mutation, in PFAPA syndrome patients.…”

Procalcitonin Levels in PFAPA Syndrome

“…In a study conducted in our country, heterozygote MEFV mutation was detected at 66%. When compared to the non-mutated group, there was no difference in symptoms and clinical course (19) .…”