ICD-11

FMF is an autoinflammatory disease associated with mutations in pyrin resulting in enhanced IL1 beta production. This results in clinical attacks of inflammation in the form of fever and serositis in the form of peritoneal, pleural or synovial inflammation along with increased acute phase reactants.

Familial Mediterranean Fever (FMF) manifests as short febrile episodes occurring at variable intervals, with intermittent abdominal, thoracic, joint and/or cutaneous pain, and the possible development of renal amyloidosis. It arises most frequently in subjects originating from the Mediterranean basin. The familial notion is being found less-and-less frequently, because of its recessive inheritance and the tendency towards smaller families. Although it is an autosomal recessive hereditary disease, environmental factors are also important in the triggering of attacks: stress, fatigue, infections. The gene responsible is that encoding marenostrin/pyrin (MEFV; 16p13.3), which is expressed in granulocytes, monocytes and eosinophils. The diagnosis is made by exclusion. Several laboratories in Europe are able to make the genetic diagnosis. A highly effective treatment is available: colchicine (1 to 2 mg/day for life). Its mode of action is unknown but this drug is able to inhibit attacks or prolong intervals between them in 90% of the patients. Interferon-alpha has been prescribed for patients with colchicine-resistant disease.