The Clinical Journey of a Patient with Familial Mediterranean Fever: One Gene, Three Diseases.

Abstract

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease characterized by recurrent self-limiting attacks of fever and serositis (Ben-Chetrit E and Levy M, Lancet 1998; 351: 659–664). The gain-of-function mutations in the responsible gene encoding pyrin, known as the MEditerranean FeVer (MEFV) gene, cause a reduction in the activation threshold of pyrin inflammasome triggering recurrent clinical attacks, subclinical inflammation, and a tendency for other inflammatory diseases (Jamilloux Y et al., Rheumatology (Oxford) 2018; 57: 100–111). Familial Mediterranean fever is more prevalently seen in the Middle Eastern communities. A relatively severe disease phenotype together with several diseases associated with FMF was frequently reported around this part of the world (Ben-Chetrit E and Yazici H, Clinical and Experimental Rheumatology 2019; 37 (Suppl 121): 18–22).