Journal
CURRENT RHEUMATOLOGY REPORTS
Volume 24, Issue 6, Pages 206-212Publisher
SPRINGER
DOI: 10.1007/s11926-022-01073-7
Keywords
Familial Mediterranean fever; MEFV; Genetic; Diagnosis; Treatment
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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.
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