Familial mediterranean fever pathophysiology

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Familial Mediterranean Fever Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]

Overview

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.

Pathophysiology

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Associated Conditions

Conditions associated with Familial Mediterranean fever include:

References

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  2. Chae, Jae Jin; Kastner, Daniel L. (2015). "Pathogenesis". 3: 13–30. doi:10.1007/978-3-319-14615-7_2. ISSN 2282-6505.
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  12. Bahceci, Semiha Erdem; Genel, Ferah; Gulez, Nesrin; Nacaroglu, Hikmet T. (2015). "Coexistence of hereditary angioedema in a case of familial Mediterranean fever with partial response to colchicine". Central European Journal of Immunology. 1: 115–116. doi:10.5114/ceji.2015.50843. ISSN 1426-3912.
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