MEFV
MEFV is a human gene that encodes the protein pyrin (also known as marenostrin), which plays a role in regulating the innate immune response and the inflammasome pathway that controls interleukin-1 beta (IL-1β) production. The gene is located on chromosome 16p13.3.
Mutations in MEFV are the primary cause of Familial Mediterranean Fever (FMF), an autoinflammatory disorder characterized
Common disease-associated variants include M694V, M680I, V726A, M694I, and E148Q. M694V is frequently linked with more
Pathophysiology involves dysregulation of the pyrin inflammasome, leading to excessive activation of inflammatory pathways and IL-1β
Diagnosis typically relies on clinical criteria supported by genetic testing for MEFV mutations, particularly in individuals
Treatment centers on preventing attacks and complications. Colchicine is the first-line therapy and reduces attack frequency