Familial Mediterranean fever and periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: shared features and main differences

Abstract

Autoinflammatory diseases are characterized by fever attacks of varying durations, associated with variety of symptoms including abdominal pain, lymphadenopathy, polyserositis, arthritis, etc. Despite the diversity of the clinical presentation, there are some common features that make the differential diagnosis of the autoinflammatory diseases challenging. Familial Mediterranean fever (FMF) is the most commonly seen autoinflammatory conditions, followed by syndrome associated with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA). In this review, we aim to evaluate disease characteristics that make a diagnosis of FMF and PFAPA challenging, especially in a regions endemic for FMF. The ethnicity of patient, the regularity of the disease attacks, and the involvement of the upper respiratory systems and symphonies could be helpful in differential diagnosis. Current data from the literature suggest the use of biological agents as an alternative for patients with FMF and PFAPA who are non-responder classic treatment options. More controlled studies are needed to evaluate the efficacy and safety of this strategy.

A mild form of Familial Mediterranean Fever associated with a polymorphisms C.NT 1588,-69G>

“…FMF is an autosomal recessive hereditary autoin lammatory disease, characterized by recurrent and selflimiting attack of fever with abdominal, chest or joint pain and erysipelas-like erythema [1][2][3][4][5]. Usually, the periodic attacks show inter and intra-individual variability in term of frequency and severity and they are triggered by apparently innocuous stimuli and may be preceded by a prodromal period [7,9]. The diagnosis is still based on clinical manifestations according to Tei-Hashomer criteria [4].…”

Prospects for Using Colchicine in Medicine: New Evidence

“…Его патогенез связывают с активацией врожденного иммунитета и, вероятно, Th1-типа иммунного ответа. Схожесть патогенетических механизмов PFAPA и FMF [50], вероятно, определяет эффективность профилактического приема колхицина при PFAPA [51][52][53].…”

Increased frequency of sleep problems in children and adolescents with familial Mediterranean fever: The role of anxiety and depression

“…FMF is usually characterized with self-limiting fever and polyserositis (especially peritonitis, pleuritis and arthritis). 1 The characteristic gene causing FMF (MEFV gene) is located on the short arm of the 16th chromosome. 2 In most FMF patients, clinical symptoms begin to emerge during childhood or adolescence.…”