期刊
CURRENT RHEUMATOLOGY REPORTS
卷 24, 期 6, 页码 206-212出版社
SPRINGER
DOI: 10.1007/s11926-022-01073-7
关键词
Familial Mediterranean fever; MEFV; Genetic; Diagnosis; Treatment
类别
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据