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Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) affecting mainly the ethnic groups originating from Mediterranean basin. The disease is characterized by self-limited inflammatory attacks of fever and polyserositis along with elevated acute phase reactan...

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Autores principales: Özen, Seza, Batu, Ezgi Deniz, Demir, Selcan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5362626/
https://www.ncbi.nlm.nih.gov/pubmed/28386255
http://dx.doi.org/10.3389/fimmu.2017.00253
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author Özen, Seza
Batu, Ezgi Deniz
Demir, Selcan
author_facet Özen, Seza
Batu, Ezgi Deniz
Demir, Selcan
author_sort Özen, Seza
collection PubMed
description Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) affecting mainly the ethnic groups originating from Mediterranean basin. The disease is characterized by self-limited inflammatory attacks of fever and polyserositis along with elevated acute phase reactants. FMF is inherited autosomal recessively; however, a significant proportion of heterozygotes also express the phenotype. FMF is caused by mutations in the MEFV gene coding for pyrin, which is a component of inflammasome functioning in inflammatory response and production of interleukin-1β (IL-1β). Recent studies have shown that pyrin recognizes bacterial modifications in Rho GTPases, which results in inflammasome activation and increase in IL-1β. Pyrin does not directly recognize Rho modification but probably affected by Rho effector kinase, which is a downstream event in the actin cytoskeleton pathway. Recently, an international group of experts has published the recommendations for the management of FMF. Colchicine is the mainstay of FMF treatment, and its regular use prevents attacks and controls subclinical inflammation in the majority of patients. Furthermore, it decreases the long-term risk of amyloidosis. However, a minority of FMF patients fail to response or tolerate colchicine treatment. Anti-interleukin-1 drugs could be considered in these patients. One should keep in mind the possibility of non-compliance in colchicine-non-responders. Although FMF is a relatively well-described AID and almost 20 years has passed since the discovery of the MEFV gene, there are still a number of unsolved problems about it such as the exact mechanism of the disease, symptomatic heterozygotes and their treatment, and the optimal management of colchicine resistance.
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spelling pubmed-53626262017-04-06 Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management Özen, Seza Batu, Ezgi Deniz Demir, Selcan Front Immunol Immunology Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) affecting mainly the ethnic groups originating from Mediterranean basin. The disease is characterized by self-limited inflammatory attacks of fever and polyserositis along with elevated acute phase reactants. FMF is inherited autosomal recessively; however, a significant proportion of heterozygotes also express the phenotype. FMF is caused by mutations in the MEFV gene coding for pyrin, which is a component of inflammasome functioning in inflammatory response and production of interleukin-1β (IL-1β). Recent studies have shown that pyrin recognizes bacterial modifications in Rho GTPases, which results in inflammasome activation and increase in IL-1β. Pyrin does not directly recognize Rho modification but probably affected by Rho effector kinase, which is a downstream event in the actin cytoskeleton pathway. Recently, an international group of experts has published the recommendations for the management of FMF. Colchicine is the mainstay of FMF treatment, and its regular use prevents attacks and controls subclinical inflammation in the majority of patients. Furthermore, it decreases the long-term risk of amyloidosis. However, a minority of FMF patients fail to response or tolerate colchicine treatment. Anti-interleukin-1 drugs could be considered in these patients. One should keep in mind the possibility of non-compliance in colchicine-non-responders. Although FMF is a relatively well-described AID and almost 20 years has passed since the discovery of the MEFV gene, there are still a number of unsolved problems about it such as the exact mechanism of the disease, symptomatic heterozygotes and their treatment, and the optimal management of colchicine resistance. Frontiers Media S.A. 2017-03-23 /pmc/articles/PMC5362626/ /pubmed/28386255 http://dx.doi.org/10.3389/fimmu.2017.00253 Text en Copyright © 2017 Özen, Batu and Demir. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Özen, Seza
Batu, Ezgi Deniz
Demir, Selcan
Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management
title Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management
title_full Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management
title_fullStr Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management
title_full_unstemmed Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management
title_short Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management
title_sort familial mediterranean fever: recent developments in pathogenesis and new recommendations for management
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5362626/
https://www.ncbi.nlm.nih.gov/pubmed/28386255
http://dx.doi.org/10.3389/fimmu.2017.00253
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