4.2 Article

Familial Mediterranean Fever: How to Interpret Genetic Results? How to Treat? A Quarter of a Century After the Association with the Mefv Gene

Journal

CURRENT RHEUMATOLOGY REPORTS
Volume 24, Issue 6, Pages 206-212

Publisher

SPRINGER
DOI: 10.1007/s11926-022-01073-7

Keywords

Familial Mediterranean fever; MEFV; Genetic; Diagnosis; Treatment

Categories

Ask authors/readers for more resources

The purpose of this review is to provide an updated approach to diagnose and manage patients with FMF. Recent findings have shown that FMF, the most common monogenic autoinflammatory disease and prototype of monogenic autoinflammatory recurrent fever syndrome, is more complex than previously thought. The interpretation of genetic test results is crucial for timely diagnosis, appropriate treatment, and follow-up of FMF patients. Here, a roadmap is proposed to help clinicians in making decisions regarding diagnosis, treatment, and follow-up for FMF patients with different genotype-phenotype combinations.
Purpose of Review To provide an up-to-date approach to diagnosis and management of FMF patients. Recent Findings Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease and prototype monogenic autoinflammatory recurrent fever syndrome. Although it is one of the well-known autoinflammatory disorders, evaluations in the etiopathogenesis and genetics of the disease have shown that FMF is more complex than previously known. Since the number of reported MEFV variants increased, evaluating the genetic test results has become more challenging. Here, we suggest a roadmap for clinicians to facilitate their decisions regarding diagnosis, treatment, and follow-up in FMF patients with different genotype-phenotype combinations. The correct interpretation of genetic test results is crucial for timely diagnosis, appropriate treatment, and follow-up of FMF patients.

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.2
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

No Data Available
No Data Available