The phenotype–genotype correlations of FMF patients: a single center study

Excerpt

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent self-limited episodes of fever and serosal inflammation accompanied by acute-phase response. The cloned FMF gene (MEFV) with 30-point mutations maps to chromosome 16p and encodes a 781-amino acid protein called pyrin or marenostrin. The common mutations are M694V (Jews, Turks, and Armenians), M680I (Armenian), M694I (Arabs), E148Q (Europeans, Turks) and V726A located on exon 2 and mainly 10 [1]. Fever (96%), peritonitis (91%), pleurisy (57%), arthritis/arthralgia (45%), erisipelas-like erythema (13%), and amyloidosis (2%) are the cardinal signs of the disease [2]. With an insight to clarify the pathogenesis of FMF, we retrospectively studied the mutation–clinical correlations. …