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Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review

Familial Mediterranean fever (FMF) (OMIM #249100) is the most common hereditary autoinflammatory disease in the world. FMF is caused by gain of function mutations of MEFV gene which encodes an immune regulatory protein, pyrin. Over the last few years, we have witnessed several new developments in th...

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Autores principales: TUFAN, Abdurrahman, LACHMANN, Helen J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Scientific and Technological Research Council of Turkey 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7672358/
https://www.ncbi.nlm.nih.gov/pubmed/32806879
http://dx.doi.org/10.3906/sag-2008-11
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author TUFAN, Abdurrahman
LACHMANN, Helen J
author_facet TUFAN, Abdurrahman
LACHMANN, Helen J
author_sort TUFAN, Abdurrahman
collection PubMed
description Familial Mediterranean fever (FMF) (OMIM #249100) is the most common hereditary autoinflammatory disease in the world. FMF is caused by gain of function mutations of MEFV gene which encodes an immune regulatory protein, pyrin. Over the last few years, we have witnessed several new developments in the pathogenesis, genetic testing, diagnosis, comorbidities, disease related damage and treatment approaches to FMF. Elucidation of some of the pathogenic mechanisms has led to the discovery of pathways involved in inflammatory, metabolic, cardiovascular and degenerative diseases. The use of next generation sequencing in FMF has revealed many new gene variants whose clinical significance may be clarified by developing functional assays and biomarkers. Clinically, although FMF is considered an episodic disease characterized by brief attacks, recent systematic studies have defined several associated chronic inflammatory conditions. Colchicine is the mainstay of FMF treatment, and interleukin (IL)-1 antagonists are the treatment of choice in refractory or intolerant cases. Experience of IL-1 antagonists, anakinra and canakinumab, is now available in thousands of colchicine resistant or intolerant FMF patients. In this contemporary review, we surveyed current FMF knowledge in the light of these recent advances.
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spelling pubmed-76723582021-09-28 Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review TUFAN, Abdurrahman LACHMANN, Helen J Turk J Med Sci Article Familial Mediterranean fever (FMF) (OMIM #249100) is the most common hereditary autoinflammatory disease in the world. FMF is caused by gain of function mutations of MEFV gene which encodes an immune regulatory protein, pyrin. Over the last few years, we have witnessed several new developments in the pathogenesis, genetic testing, diagnosis, comorbidities, disease related damage and treatment approaches to FMF. Elucidation of some of the pathogenic mechanisms has led to the discovery of pathways involved in inflammatory, metabolic, cardiovascular and degenerative diseases. The use of next generation sequencing in FMF has revealed many new gene variants whose clinical significance may be clarified by developing functional assays and biomarkers. Clinically, although FMF is considered an episodic disease characterized by brief attacks, recent systematic studies have defined several associated chronic inflammatory conditions. Colchicine is the mainstay of FMF treatment, and interleukin (IL)-1 antagonists are the treatment of choice in refractory or intolerant cases. Experience of IL-1 antagonists, anakinra and canakinumab, is now available in thousands of colchicine resistant or intolerant FMF patients. In this contemporary review, we surveyed current FMF knowledge in the light of these recent advances. The Scientific and Technological Research Council of Turkey 2020-11-03 /pmc/articles/PMC7672358/ /pubmed/32806879 http://dx.doi.org/10.3906/sag-2008-11 Text en Copyright © 2020 The Author(s) This article is distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/4.0/ ), which permits unrestricted use and redistribution provided that the original author and source are credited.
spellingShingle Article
TUFAN, Abdurrahman
LACHMANN, Helen J
Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review
title Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review
title_full Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review
title_fullStr Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review
title_full_unstemmed Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review
title_short Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review
title_sort familial mediterranean fever, from pathogenesis to treatment: a contemporary review
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7672358/
https://www.ncbi.nlm.nih.gov/pubmed/32806879
http://dx.doi.org/10.3906/sag-2008-11
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