Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder most common among individuals of Mediterranean descent, such as Turks, Armenians, Arabs, and Sephardic Jews. It is caused by mutations in the MEFV gene, which encodes the protein pyrin, involved in the regulation of inflammation. FMF follows an autosomal recessive pattern of inheritance, meaning a person must inherit two mutated copies of the gene (one from each parent) to develop the disease. However, there is significant variability in clinical expression even among individuals with the same genotype, including within the same family.
Clinically, FMF is characterized by recurrent episodes of fever, serositis (abdominal, chest, or joint pain), and inflammation of the joints (arthritis). Attacks usually last between 1 and 3 days and resolve spontaneously. One of the major risks in untreated patients is amyloidosis, which can lead to kidney failure. The standard treatment is colchicine, which helps prevent attacks and amyloid deposition.