Familial Mediterranean Fever and E148Q Pyrin Gene Mutation in Greece

Abstract

Familial Mediterranean fever (FMF) is an inherited disease characterized by recurrent inflammatory polyserositis. Although FMF is classically expected only in Middle East populations, it is becoming evident that the disease affects more groups than initially thought. The disease is associated with a number of mutations of the MEFV gene, which codes for a protein named pyrin. The role of E148Q pyrin gene mutation in the development of FMF remains inconclusive. Some authors believe it causes the disease, whereas others favor the concept of a noncausative role. To understand better the role of this mutation, gathering data from different populations may be of value. We studied 60 Greek cases fulfilling the criteria for FMF diagnosis, 30 cases being a definite FMF diagnosis and 30 a probable diagnosis. Twenty-one of the patients, carried mutation E148Q. One was a homozygote (E148Q/E148Q), and 20 carried mutation E148Q in combination with other mutations (compound heterozygotes). In 6 of the 60 cases studied, no mutations were found. Compared with the results for healthy controls, E148Q mutation is significantly frequent. Because different populations may exhibit different patterns of pyrin mutations, association of the E148Q mutation with FMF should be considered in connection with origin data.

Familial Mediterranean fever—A review

“…55,56 Several studies describe p.Glu148Gln as a disease-causing mutation. [57][58][59][60][61][62] The Infevers Web site also lists it as causing disease-related symptoms. Other studies have not found p.Glu148Gln to be associated with clinical disease and have, therefore, considered it a benign polymorphism.…”

Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever

“…The p.E148Q (c.442G.C) variation situated in exon 2 was initially described as a mutation, 3 but its implication in FMF remains controversial. [4][5][6][7][8][9] By using a population-based approach, we recently showed that the p.E148Q allele is a benign polymorphism. 7 Here, we use pedigree analysis to assess the association of the p.E148Q allele with FMF.…”

Protracted arthritis in a Japanese patient with familial Mediterranean fever

“…The E148Q allele appears to confer an inflammatory phenotype in Turkish individuals [12]. In a Greek population, the E148Q allele was found to be significantly more frequent in FMF patients than that in healthy controls [13]. Although FMF patients with E148Q allele have a heterozygous clinical presentation, some patients are symptomatic and colchicine treatment is required as demonstrated in our patient.…”