Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review
Clinical features
Diagnosis
Familial Mediterranean fever
Genetics
Pathogenesis
Prognosis
Treatment
Journal
Turkish journal of medical sciences
ISSN: 1303-6165
Titre abrégé: Turk J Med Sci
Pays: Turkey
ID NLM: 9441758
Informations de publication
Date de publication:
03 11 2020
03 11 2020
Historique:
received:
03
08
2020
accepted:
13
08
2020
entrez:
19
8
2020
pubmed:
19
8
2020
medline:
21
8
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 32806879
doi: 10.3906/sag-2008-11
pmc: PMC7672358
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1591-1610Informations de copyright
This work is licensed under a Creative Commons Attribution 4.0 International License.
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