Familial Mediterranean Fever

First described in 1945, familial mediterranean fever (FMF) is the most common and well-known single-gene inherited autoinflammatory syndrome. It is seen frequently in Jews, Armenians, Arabs and Turks from the races of the Mediterranean region. Although it is rarer in other races, it has spread all over the world with international migrations and population displacements. It is characterized by recurrent episodes of fever and inflammatory serositis (inflammatory reaction of membranes such as the joint membrane, peritoneal membrane in the abdomen and the pleura), arthritis and rash without a known cause of fever. The disease is caused by autosomal recessive mutations in the MEFV (MEditerranean FeVer) gene. However, there is no complete correlation between the clinic of the disease and genetic mutations. While the clinical findings may be mild in case of homozygous mutation, it may be severe in heterozygous patients. The most feared complication is the development of nephrotic syndrome and then chronic renal failure as a result of amyloid protein precipitation in the kidney. Clinical signs and symptoms of FMF develop in 20% of patients by age 2, 50% by age 10, and 90% by age 20. A typical episode of FMF lasts 12 to 72 hours and peaks soon after the fever starts. Abdominal pain mimicking appendicitis is accompanied by fever in more than 90% of patients. Joint inflammation (arthritis) is seen in 50-75% of cases, pleuritis in 30-45%, red rash in 7-40% and pericardial inflammation in less than 1% of cases. FMF disease should be kept in mind in all children with recurrent fevers, especially in the ethnic groups mentioned above, as fever may be the only manifestation of an attack, especially in young children. The main drug used in the treatment of FMF is colchicine. As it prevents attacks, it also prevents the development of amyloidosis. It is a drug that should be used for life after diagnosis. Regular medical check-ups are required for drug-related effects and side effects evaluation. If the attacks do not go away despite regular use, other drugs can be given in addition to colchicine. If your child develops recurrent fever, abdominal and joint pain, consult a pediatric rheumatologist. We are close to you like a phone. Just be healthy.