Familial Mediterranean fever (FMF), is a monogenic hereditary disorder, and recorded to be the most common auto-inflammatory disease associated to certain variants in MEFV gene, affecting people of Mediterranean descent. The high prevalence found in specific ethnicities including: Armenians, Arabs, Greek, non-Ashkenazi Jews and Turks. The major signs and symptoms including: fever attacks, inflammation in the abdomen (serositis), chest, skin and joints. The first attack usually occurs before the age of 20 years. The most sever complication is amyloid A, considered secondary damage (specially occur in kidney). By creating functional assays using specific biomarkers, it going to be possible to determine the clinical value of the numerous novel gene variants detected by gene sequencing in FMF. Recently, several data bases constitute a huge number of data conducted on FMF. Until now 398 variants were identified as being linked to MEFV gene. However, it has been evident that the process of interpreting the results of a diagnostic test can be quite difficult because some individuals with FMF may show only one or none of the known MEFV mutations, and vice versa, clinical symptoms are not always present when MEFV variants are carried. This review follows up the updated concept regarding this disease and the current FMF understanding in connection with these recent advances.

Title

Palestinian Medical and Pharmaceutical Journal

Publisher

An-Najah National University

Publisher Country

Palestine

Publication Type

Online only

Volume

--

Year

2025

Pages

12