Familial mediterranean fever overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Historical Perspective
Familial Mediterranean fever was first described in a Jewish schoolgirl by Janeway and Mosenthal in 1908. In 1955, Dr. Heller called this disorder familial Mediterranean fever, which refers to its high prevalence in this region and the key presenting feature of periodic fever. The disease was life-threatening before the introduction of colchicine in 1972.
Classification
There is no established system for the classification of familial Mediterranean fever. However, familial Mediterranean fever may be classified according to phenotypic manifestation into three subtypes/groups: type 1, type 2, and type 3.
Pathophysiology
The exact pathogenesis of familial mediterranean fever is not fully understood. However, nearly all the cases are due to a mutation in the MEFV gene, which codes for a protein called pyrin. Normally, pyrin regulates the production of interleukin-1β (IL-1β), an important pro-inflammatory cytokine. When mutation occurs, mutated protein is unable to suppress expression of IL-1β, therefore an inflammatory response would develop results in clinical manifestation of FMF. The disease inherits in an autosomal recessive mode. However, there is an increasing number of data reporting the autosomal dominant inheritance.
Causes
Familial Mediterranean fever is most often caused by a mutation in the MEFV gene. This gene creates proteins involved in inflammation. There are also reports of FMF cases in the absence of causative gene in the genetic screening.
Epidemiology and demographics
The incidence of familial mediterranean fever is estimated 100 per 100,000 individuals worldwide. The prevalence of familial mediterranean fever differs widely according to the geographic area. In the non- Ashkenazi Jews, it ranges from 100 to 400 per 100,000 individuals. Patients of all age groups may develop the familial Mediterranean fever (FMF). However, it usually manifests during Childhood. This disorder usually affects individuals of the Turkish, Armenian, Jewish and Arabic communities. However, it is also common among western societies such as Italy, Greece, Crete, France, and Germany.
Risk factors
There are no established risk factors for familial Mediterranean fever. However, there are some factors which have been observed to trigger the attacks.