Familial Mediterranean Fever (FMF) is the most common periodic fever syndrome and is characterized by recurrent episodes fever, which can be accompanied by a rash and painful inflammation involving the abdomen, chest, and joints. Onset of episodes is typically in childhood or the teenage years. Amyloidosis, the build up of protein deposits in the body’s organs, is the most severe complication of FMF and can lead to kidney failure. Symptoms of FMF are variable, even between members of the same family. FMF primarily affects individuals of Mediterranean descent and is less common in other populations. Many patients respond to colchicine treatment.

MEFV is the only gene in which mutations are currently known to cause FMF. There are several common mutations, including c.2080A>G (p.Met694Val). Classic FMF typically follows an autosomal recessive inheritance pattern, with two MEFV gene mutations identified in an individual. However, in rare cases individuals with non-classic FMF or a mild clinical presentation have a single MEFV gene mutation.