Akademik Veri Yönetim Sistemi
Turkish archives of pediatrics, cilt.59, sa.6, ss.527-534, 2024 (ESCI)
Familial Mediterranean fever (FMF) is the most prevalent monogenic autoinflammatory
disorder, characterized by recurrent fever and serositis. It primarily affects individuals of
Mediterranean descent, including Arabs, Armenians, Turks, and Jews. The Mediterranean fever
(MEFV) gene, responsible for FMF, was discovered in 1997. Biallelic pathogenic variants lead to
excessive activation of the pyrin inflammasome, resulting in inflammation.
Clinical manifestations include recurrent fever, abdominal pain, and joint involvement, with
attacks typically lasting 12-72 hours. Diagnosis relies on clinical criteria and is supported by
genetic testing. Colchicine is the primary treatment to reduce attack frequency and prevent the
complications like renal amyloidosis.
Despite advancements in understanding FMF, including its genetic basis and treatment options,
challenges remain in distinguishing it from other autoinflammatory diseases. Co-existing conditions
such as juvenile idiopathic arthritis and inflammatory bowel disease are common among
FMF patients. Ongoing research should aim to clarify the development of the disease, enhance
diagnostic accuracy, and address its clinical presentation and genetic variability, with a focus
on identifying new genetic mutations and epigenetic factors that contribute to its pathogenesis.